TMEM38B

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





Description: This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA replication-dependent nucleosome assembly (GO:0006335)8.04791332
2DNA replication-dependent nucleosome organization (GO:0034723)8.04791332
3cellular hyperosmotic response (GO:0071474)6.50488206
4glomerular filtration (GO:0003094)6.16541799
5renal filtration (GO:0097205)5.54156277
6piRNA metabolic process (GO:0034587)5.45341665
7protein K6-linked ubiquitination (GO:0085020)5.35572878
8cell volume homeostasis (GO:0006884)5.29076764
9cellular response to nitric oxide (GO:0071732)4.93370106
10apoptotic process involved in morphogenesis (GO:0060561)4.59016208
11folic acid-containing compound biosynthetic process (GO:0009396)4.57103152
12protein kinase C signaling (GO:0070528)4.45954224
13regulation of integrin activation (GO:0033623)4.39791316
14actin-myosin filament sliding (GO:0033275)4.28040137
15muscle filament sliding (GO:0030049)4.28040137
16polyol transport (GO:0015791)4.22328069
17leukocyte tethering or rolling (GO:0050901)4.21639083
18regulation of mitochondrial translation (GO:0070129)4.14724026
19cullin deneddylation (GO:0010388)4.08707243
20positive regulation of lamellipodium assembly (GO:0010592)3.93252113
21hyperosmotic salinity response (GO:0042538)3.90518894
22regulation of posttranscriptional gene silencing (GO:0060147)3.88655300
23regulation of gene silencing by miRNA (GO:0060964)3.88655300
24regulation of gene silencing by RNA (GO:0060966)3.88655300
25citrulline biosynthetic process (GO:0019240)3.85273428
26regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.80067260
27response to mercury ion (GO:0046689)3.79545952
28tricarboxylic acid cycle (GO:0006099)3.77272736
29mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.76203775
30IMP metabolic process (GO:0046040)3.68893662
31IMP biosynthetic process (GO:0006188)3.68646232
32protein deneddylation (GO:0000338)3.66207087
33regulation of translational fidelity (GO:0006450)3.64051190
34maturation of 5.8S rRNA (GO:0000460)3.63470428
35oxidative phosphorylation (GO:0006119)3.62296326
36response to nitric oxide (GO:0071731)3.61448979
37actin-mediated cell contraction (GO:0070252)3.60855188
38cellular response to reactive nitrogen species (GO:1902170)3.57544482
39ubiquinone biosynthetic process (GO:0006744)3.55751349
40retina vasculature morphogenesis in camera-type eye (GO:0061299)3.54001450
41CENP-A containing nucleosome assembly (GO:0034080)3.53351488
42gene silencing by RNA (GO:0031047)3.52811103
43chromatin remodeling at centromere (GO:0031055)3.50525917
44rRNA modification (GO:0000154)3.45878971
45positive regulation of digestive system process (GO:0060456)3.44942113
46regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.43888574
47gas transport (GO:0015669)3.42824392
48apoptotic process involved in development (GO:1902742)3.40374281
49regulation of cholesterol storage (GO:0010885)3.39912901
50AMP metabolic process (GO:0046033)3.35511683
51establishment of protein localization to mitochondrial membrane (GO:0090151)3.35437097
52pre-miRNA processing (GO:0031054)3.34325209
53proteasome assembly (GO:0043248)3.33616120
54regulation of skeletal muscle contraction (GO:0014819)3.31113493
55DNA replication checkpoint (GO:0000076)3.29429099
56negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)3.27624076
57telomere maintenance via semi-conservative replication (GO:0032201)3.27298616
58ubiquinone metabolic process (GO:0006743)3.27002381
59regulation of gene silencing (GO:0060968)3.25412567
60renal absorption (GO:0070293)3.24852605
61positive regulation of lamellipodium organization (GO:1902745)3.23675663
62paraxial mesoderm development (GO:0048339)3.22702670
63vascular endothelial growth factor signaling pathway (GO:0038084)3.21079390
64DNA strand elongation involved in DNA replication (GO:0006271)3.18667931
65mitochondrial respiratory chain complex assembly (GO:0033108)3.17295256
66chromatin assembly (GO:0031497)3.16369733
67ATP synthesis coupled proton transport (GO:0015986)3.16172165
68energy coupled proton transport, down electrochemical gradient (GO:0015985)3.16172165
69basement membrane organization (GO:0071711)3.15936350
70sarcoplasmic reticulum calcium ion transport (GO:0070296)3.15879071
71nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)3.15583602
72branched-chain amino acid catabolic process (GO:0009083)3.15373715
73mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.14747991
74protein complex biogenesis (GO:0070271)3.12876929
75cytochrome complex assembly (GO:0017004)3.12868922
76lateral ventricle development (GO:0021670)3.12056578
77respiratory chain complex IV assembly (GO:0008535)3.10194401
78inner mitochondrial membrane organization (GO:0007007)3.08063170
79rRNA methylation (GO:0031167)3.07874338
80nucleosome assembly (GO:0006334)3.07536170
81regulation of acyl-CoA biosynthetic process (GO:0050812)3.07405249
82low-density lipoprotein particle clearance (GO:0034383)3.07278185
83cellular response to dexamethasone stimulus (GO:0071549)3.07144665
84respiratory electron transport chain (GO:0022904)3.07119428
85blood vessel maturation (GO:0001955)3.07046713
86L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.06888521
87synapsis (GO:0007129)3.06710822
88DNA strand elongation (GO:0022616)3.05927920
89purine nucleobase biosynthetic process (GO:0009113)3.03982952
90response to dexamethasone (GO:0071548)3.02400458
91regulation of endothelial cell differentiation (GO:0045601)3.00985191
92electron transport chain (GO:0022900)2.97974000
93ribosomal large subunit biogenesis (GO:0042273)2.97244495
94formation of translation preinitiation complex (GO:0001731)2.97150940
95purine nucleotide salvage (GO:0032261)2.95274136
96histone exchange (GO:0043486)2.94548643
97skeletal muscle contraction (GO:0003009)2.94488495
98transepithelial transport (GO:0070633)2.93744029
99regulation of translational termination (GO:0006449)2.93305078
100developmental programmed cell death (GO:0010623)2.93171013
101regulation of cofactor metabolic process (GO:0051193)2.92303258
102regulation of coenzyme metabolic process (GO:0051196)2.92303258
103ribosomal small subunit assembly (GO:0000028)2.91562574
104regulation of meiosis I (GO:0060631)2.88059737
105peptidyl-histidine modification (GO:0018202)2.87950565
106double-strand break repair via nonhomologous end joining (GO:0006303)2.87745954
107non-recombinational repair (GO:0000726)2.87745954
108regulation of megakaryocyte differentiation (GO:0045652)2.87697471
109mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.87246070
110mitochondrial respiratory chain complex I assembly (GO:0032981)2.87246070
111NADH dehydrogenase complex assembly (GO:0010257)2.87246070
112leukocyte migration involved in inflammatory response (GO:0002523)2.86609908
113negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class 2.86262357
114pteridine-containing compound biosynthetic process (GO:0042559)2.85797350
115cellular respiration (GO:0045333)2.85647765
116endocrine hormone secretion (GO:0060986)2.85381661
117endothelial cell morphogenesis (GO:0001886)2.83269594
118embryonic placenta development (GO:0001892)2.82800404
119pseudouridine synthesis (GO:0001522)2.81833912
120quinone biosynthetic process (GO:1901663)2.80762687
121patterning of blood vessels (GO:0001569)2.80333682
122tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.80176601
123RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.80176601
124mitotic recombination (GO:0006312)2.76571066
125adherens junction assembly (GO:0034333)2.75240007
126cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.75226199
127regulation of relaxation of muscle (GO:1901077)2.74967892
128cell-substrate adherens junction assembly (GO:0007045)2.74284156
129focal adhesion assembly (GO:0048041)2.74284156
130telomere maintenance via recombination (GO:0000722)2.71983668
131negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)2.71846749
132one-carbon compound transport (GO:0019755)2.71336622
133somatic hypermutation of immunoglobulin genes (GO:0016446)2.69494216
134somatic diversification of immune receptors via somatic mutation (GO:0002566)2.69494216
135maturation of SSU-rRNA (GO:0030490)2.69168409
136amino acid salvage (GO:0043102)2.68649261
137L-methionine salvage (GO:0071267)2.68649261
138L-methionine biosynthetic process (GO:0071265)2.68649261
139positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.67723838
140citrulline metabolic process (GO:0000052)2.67529025
141prenylation (GO:0097354)2.66961919
142protein prenylation (GO:0018342)2.66961919
143DNA ligation (GO:0006266)2.66538181
144nucleobase biosynthetic process (GO:0046112)2.66329563
145ribosome assembly (GO:0042255)2.66307482
146metanephric nephron epithelium development (GO:0072243)2.66161241
147metanephric nephron tubule development (GO:0072234)2.64785801
148metanephric tubule development (GO:0072170)2.64785801
149negative regulation of cell killing (GO:0031342)2.64206824
150negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.64206824
151cellular response to osmotic stress (GO:0071470)2.63811339
152aerobic respiration (GO:0009060)2.62489747
153regulation of histone H3-K27 methylation (GO:0061085)2.62305952
154morphogenesis of an endothelium (GO:0003159)2.62101780
155endothelial tube morphogenesis (GO:0061154)2.62101780
156regulation of triglyceride biosynthetic process (GO:0010866)2.61859531
157ovulation cycle (GO:0042698)2.61129953
158regulation of centriole replication (GO:0046599)2.61085016
159cell migration involved in gastrulation (GO:0042074)2.60296056
160gonadal mesoderm development (GO:0007506)2.60232500
161nucleosome organization (GO:0034728)2.60037974
162negative regulation of stress fiber assembly (GO:0051497)2.59933637
163cell-substrate junction assembly (GO:0007044)2.59209971
164anatomical structure regression (GO:0060033)2.59199593
165regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.58963744
166negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.58755507
167L-alpha-amino acid transmembrane transport (GO:1902475)2.58618152
168glycine metabolic process (GO:0006544)2.58550894
169aspartate family amino acid catabolic process (GO:0009068)2.57846100
170oocyte development (GO:0048599)2.56820311
171glycoprotein catabolic process (GO:0006516)2.56283367
172response to laminar fluid shear stress (GO:0034616)2.56240070
173branched-chain amino acid metabolic process (GO:0009081)2.55442062
174adhesion of symbiont to host (GO:0044406)2.55011525
175regulation of sulfur metabolic process (GO:0042762)2.54816812
176positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.53619317
177interleukin-6-mediated signaling pathway (GO:0070102)2.52969028
178purine-containing compound salvage (GO:0043101)2.52416395
179protein localization to endosome (GO:0036010)2.52264570
180JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.51504650
181ovulation from ovarian follicle (GO:0001542)2.51290628
182positive regulation of mitochondrial calcium ion concentration (GO:0051561)2.51184350
183thymic T cell selection (GO:0045061)2.51150523
184nucleotide-excision repair, DNA gap filling (GO:0006297)2.51048020
185regulation of somitogenesis (GO:0014807)2.49786241
186anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.49608522
187mitochondrial RNA metabolic process (GO:0000959)2.49280872
188detection of molecule of bacterial origin (GO:0032490)2.48849689
189purine ribonucleoside monophosphate biosynthetic process (GO:0009168)2.48785011
190purine nucleoside monophosphate biosynthetic process (GO:0009127)2.48785011
191gene silencing (GO:0016458)2.48605950
192folic acid metabolic process (GO:0046655)2.48574040
193regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060211)2.48308034
194positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)2.48308034
195amino acid activation (GO:0043038)2.47578987
196tRNA aminoacylation (GO:0043039)2.47578987
197regulation of lamellipodium assembly (GO:0010591)2.45398863

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human5.44874882
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.73006352
3BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.85527364
4GABP_17652178_ChIP-ChIP_JURKAT_Human3.59469277
5STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse3.45065879
6EST1_17652178_ChIP-ChIP_JURKAT_Human3.37143681
7SMAD1_18555785_ChIP-Seq_MESCs_Mouse3.26686960
8MYC_18555785_ChIP-Seq_MESCs_Mouse3.16499046
9CREB1_15753290_ChIP-ChIP_HEK293T_Human3.02575387
10STAT6_21828071_ChIP-Seq_BEAS2B_Human3.02455440
11* E2F4_17652178_ChIP-ChIP_JURKAT_Human2.91921439
12TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.82040096
13JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.80791999
14ELK1_19687146_ChIP-ChIP_HELA_Human2.78258690
15HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.59234101
16SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.53798040
17PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.52266179
18ETS1_20019798_ChIP-Seq_JURKAT_Human2.51538097
19E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.50264536
20CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.44046746
21NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.39386121
22VDR_23849224_ChIP-Seq_CD4+_Human2.37011718
23IGF1R_20145208_ChIP-Seq_DFB_Human2.35973829
24FOXM1_23109430_ChIP-Seq_U2OS_Human2.30437179
25EGR1_23403033_ChIP-Seq_LIVER_Mouse2.21671361
26* MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.19496894
27FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.18288978
28FOXP3_21729870_ChIP-Seq_TREG_Human2.12589356
29POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.11618601
30PADI4_21655091_ChIP-ChIP_MCF-7_Human2.10343258
31* SRF_21415370_ChIP-Seq_HL-1_Mouse2.09017638
32DCP1A_22483619_ChIP-Seq_HELA_Human2.05601443
33NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.03285773
34MYC_18358816_ChIP-ChIP_MESCs_Mouse2.01909774
35MYC_22102868_ChIP-Seq_BL_Human2.01830665
36FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse12.7073393
37SALL1_21062744_ChIP-ChIP_HESCs_Human1.98674893
38MYC_19030024_ChIP-ChIP_MESCs_Mouse1.98499220
39AR_21909140_ChIP-Seq_LNCAP_Human1.96794583
40ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.93257507
41FUS_26573619_Chip-Seq_HEK293_Human1.91256086
42HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.89485084
43* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.87172723
44STAT3_1855785_ChIP-Seq_MESCs_Mouse1.87009666
45YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.82740372
46* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.77744233
47KDM2B_26808549_Chip-Seq_SUP-B15_Human1.77390590
48TTF2_22483619_ChIP-Seq_HELA_Human1.73303785
49E2F7_22180533_ChIP-Seq_HELA_Human1.71727822
50KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.71646874
51EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.71398227
52ZNF263_19887448_ChIP-Seq_K562_Human1.68962132
53MYC_19079543_ChIP-ChIP_MESCs_Mouse1.68516160
54MYC_18940864_ChIP-ChIP_HL60_Human1.66753386
55* PPARA_22158963_ChIP-Seq_LIVER_Mouse1.66605069
56ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.65460527
57THAP11_20581084_ChIP-Seq_MESCs_Mouse1.64763971
58E2F1_21310950_ChIP-Seq_MCF-7_Human1.64018347
59* RXR_22158963_ChIP-Seq_LIVER_Mouse1.62116726
60ELK3_25401928_ChIP-Seq_HUVEC_Human1.61690245
61ELF1_17652178_ChIP-ChIP_JURKAT_Human1.61400096
62SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.61174792
63GABP_19822575_ChIP-Seq_HepG2_Human1.58551979
64HOXB4_20404135_ChIP-ChIP_EML_Mouse1.58041019
65MYCN_18555785_ChIP-Seq_MESCs_Mouse1.56758746
66VDR_22108803_ChIP-Seq_LS180_Human1.56663651
67KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.54570415
68KDM2B_26808549_Chip-Seq_DND41_Human1.53586839
69TCF3_18692474_ChIP-Seq_MESCs_Mouse1.53079317
70PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.51921277
71ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.49503965
72EWS_26573619_Chip-Seq_HEK293_Human1.49452631
73* PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.47441904
74XRN2_22483619_ChIP-Seq_HELA_Human1.45658554
75FLI1_27457419_Chip-Seq_LIVER_Mouse1.41651734
76NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.41543739
77ZNF274_21170338_ChIP-Seq_K562_Hela1.41227194
78NANOG_18555785_ChIP-Seq_MESCs_Mouse1.40575376
79TCF7_22412390_ChIP-Seq_EML_Mouse1.40478514
80KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.39645774
81* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.39134712
82TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.38594728
83EGR1_19374776_ChIP-ChIP_THP-1_Human1.37893481
84BRD4_27068464_Chip-Seq_AML-cells_Mouse1.35885687
85BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.35596900
86CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.33595361
87VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.33358645
88CLOCK_20551151_ChIP-Seq_293T_Human1.29770876
89RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.29709245
90CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.28006725
91POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.26680595
92KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.26649304
93ESR1_15608294_ChIP-ChIP_MCF-7_Human1.26194372
94NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.22944416
95GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.21127561
96KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.20858292
97KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.20858292
98KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.20858292
99LXR_22158963_ChIP-Seq_LIVER_Mouse1.19925087
100TCF3_18692474_ChIP-Seq_MEFs_Mouse1.19658195
101SOX2_18692474_ChIP-Seq_MESCs_Mouse1.18645314
102TFEB_21752829_ChIP-Seq_HELA_Human1.18566150
103RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.17620897
104KDM2B_26808549_Chip-Seq_JURKAT_Human1.17563126
105VDR_21846776_ChIP-Seq_THP-1_Human1.16311691
106STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.13738953
107RACK7_27058665_Chip-Seq_MCF-7_Human1.13472931
108* HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.13310131
109E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.12783701
110* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.12341153
111KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.11617940
112UTX_26944678_Chip-Seq_JUKART_Human1.09696550
113ZFP281_27345836_Chip-Seq_ESCs_Mouse1.09646663
114NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.09412231
115ERG_20887958_ChIP-Seq_HPC-7_Mouse1.07651202
116POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.07374837
117MAF_26560356_Chip-Seq_TH1_Human1.06358875
118PCGF2_27294783_Chip-Seq_ESCs_Mouse1.05468373
119KDM5A_27292631_Chip-Seq_BREAST_Human1.05234717
120NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.05128242
121FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.04581457
122SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.04391174
123TAF15_26573619_Chip-Seq_HEK293_Human1.04339869
124* ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.02585024
125KDM2B_26808549_Chip-Seq_K562_Human1.02433966
126RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.01451801
127SOX17_20123909_ChIP-Seq_XEN_Mouse1.01108475
128EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.00514517
129CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.00443251
130YY1_21170310_ChIP-Seq_MESCs_Mouse1.00260866
131MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.00126147
132ER_23166858_ChIP-Seq_MCF-7_Human1.00098153
133HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.99989623
134TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.99579376
135SOX2_16153702_ChIP-ChIP_HESCs_Human0.99214996
136* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.98485972
137EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.97821035
138NOTCH1_21737748_ChIP-Seq_TLL_Human0.96300896
139HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.95049084
140IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.94344891
141TP63_17297297_ChIP-ChIP_HaCaT_Human0.93315233
142E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.93019181
143PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.91979828
144P300_27058665_Chip-Seq_ZR-75-30cells_Human0.91055680
145HTT_18923047_ChIP-ChIP_STHdh_Human0.91028208
146NANOG_16153702_ChIP-ChIP_HESCs_Human0.89821631
147NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.89141153
148GATA1_22025678_ChIP-Seq_K562_Human0.88855063
149CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.88641485
150FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.88297072
151CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.87859882
152TRIM28_21343339_ChIP-Seq_HEK293_Human0.87796366
153EZH2_27294783_Chip-Seq_NPCs_Mouse0.87581406
154DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.87286521
155* GATA4_21415370_ChIP-Seq_HL-1_Mouse0.86969895
156* ZFP57_27257070_Chip-Seq_ESCs_Mouse0.86773108
157KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.86679699
158LXR_22292898_ChIP-Seq_THP-1_Human0.86630330
159* TBX20_22328084_ChIP-Seq_HEART_Mouse0.86253392
160* TBX20_22080862_ChIP-Seq_HEART_Mouse0.86253392
161MAF_26560356_Chip-Seq_TH2_Human0.86169556
162NANOG_19829295_ChIP-Seq_ESCs_Human0.86152372
163SOX2_19829295_ChIP-Seq_ESCs_Human0.86152372
164KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.85828186
165MYB_21317192_ChIP-Seq_ERMYB_Mouse0.85536677
166NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.85038639
167TCF3_18347094_ChIP-ChIP_MESCs_Mouse0.84525399
168ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.84063182
169ELF1_20517297_ChIP-Seq_JURKAT_Human0.83618630
170* AR_20517297_ChIP-Seq_VCAP_Human0.83602246
171SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.82706738
172MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.82283174
173ELK1_22589737_ChIP-Seq_MCF10A_Human0.81832100
174* P300_19829295_ChIP-Seq_ESCs_Human0.81217098
175FOXO3_23340844_ChIP-Seq_DLD1_Human0.81162320
176STAT4_19710469_ChIP-ChIP_TH1__Mouse0.80926295
177CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.80726289
178UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.80087973
179NELFA_20434984_ChIP-Seq_ESCs_Mouse0.79981911
180PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.79808820
181HIF1A_21447827_ChIP-Seq_MCF-7_Human0.79778833
182TP53_22573176_ChIP-Seq_HFKS_Human0.79544460
183NANOG_18692474_ChIP-Seq_MESCs_Mouse0.78869465
184GATA1_19941826_ChIP-Seq_K562_Human0.78191062
185ESR1_21235772_ChIP-Seq_MCF-7_Human0.77699726
186FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.77508086
187KLF5_20875108_ChIP-Seq_MESCs_Mouse0.77105113
188ESR2_21235772_ChIP-Seq_MCF-7_Human0.76112774
189NANOG_21062744_ChIP-ChIP_HESCs_Human0.75967150
190ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.75747596
191SPI1_20517297_ChIP-Seq_HL60_Human0.75470882
192CTCF_21964334_Chip-Seq_Bcells_Human0.74697253

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003724_increased_susceptibility_to4.32709874
2MP0002837_dystrophic_cardiac_calcinosis3.74560526
3MP0003646_muscle_fatigue3.70844951
4MP0000751_myopathy3.50646832
5MP0003705_abnormal_hypodermis_morpholog3.47976154
6MP0008438_abnormal_cutaneous_collagen3.41737066
7MP0004145_abnormal_muscle_electrophysio3.11676440
8MP0004272_abnormal_basement_membrane3.11209842
9MP0000749_muscle_degeneration3.01623143
10MP0010094_abnormal_chromosome_stability3.00971424
11MP0008058_abnormal_DNA_repair2.94123835
12MP0009697_abnormal_copulation2.63990623
13MP0010368_abnormal_lymphatic_system2.51965688
14MP0000372_irregular_coat_pigmentation2.48894110
15MP0006036_abnormal_mitochondrial_physio2.43304293
16MP0000750_abnormal_muscle_regeneration2.39159837
17MP0009278_abnormal_bone_marrow2.35713153
18MP0003693_abnormal_embryo_hatching2.33629397
19MP0003303_peritoneal_inflammation2.31288786
20MP0004957_abnormal_blastocyst_morpholog2.26488868
21MP0004185_abnormal_adipocyte_glucose2.21513757
22MP0009840_abnormal_foam_cell2.17378994
23MP0005360_urolithiasis2.11860051
24MP0005084_abnormal_gallbladder_morpholo2.06509090
25MP0005167_abnormal_blood-brain_barrier2.02812320
26MP0003195_calcinosis1.95042797
27MP0004233_abnormal_muscle_weight1.94961397
28MP0005076_abnormal_cell_differentiation1.94322647
29MP0001851_eye_inflammation1.93291904
30MP0005275_abnormal_skin_tensile1.88516755
31MP0005330_cardiomyopathy1.87800359
32MP0000747_muscle_weakness1.81403713
33MP0003566_abnormal_cell_adhesion1.80023492
34MP0003279_aneurysm1.75420632
35MP0002139_abnormal_hepatobiliary_system1.74435789
36MP0003448_altered_tumor_morphology1.73116425
37MP0001661_extended_life_span1.72947157
38MP0003191_abnormal_cellular_cholesterol1.71407768
39MP0006035_abnormal_mitochondrial_morpho1.68383656
40MP0010352_gastrointestinal_tract_polyps1.68283074
41MP0003136_yellow_coat_color1.64649938
42MP0003186_abnormal_redox_activity1.62979306
43MP0006072_abnormal_retinal_apoptosis1.62296458
44MP0003091_abnormal_cell_migration1.62276220
45MP0002938_white_spotting1.58352369
46MP0004147_increased_porphyrin_level1.56516122
47MP0000733_abnormal_muscle_development1.56469847
48MP0008007_abnormal_cellular_replicative1.56312883
49MP0003718_maternal_effect1.55023915
50MP0003077_abnormal_cell_cycle1.54851482
51MP0004510_myositis1.51640657
52MP0001915_intracranial_hemorrhage1.51471694
53MP0003300_gastrointestinal_ulcer1.47756961
54MP0003950_abnormal_plasma_membrane1.46018252
55MP0003941_abnormal_skin_development1.45996261
56MP0002090_abnormal_vision1.41967490
57MP0001764_abnormal_homeostasis1.41349330
58MP0005253_abnormal_eye_physiology1.40546616
59MP0002138_abnormal_hepatobiliary_system1.40348493
60MP0003045_fibrosis1.36877400
61MP0002638_abnormal_pupillary_reflex1.36632168
62MP0005408_hypopigmentation1.36445293
63MP0003011_delayed_dark_adaptation1.35714659
64MP0008932_abnormal_embryonic_tissue1.35256251
65MP0005266_abnormal_metabolism1.34250803
66MP0010234_abnormal_vibrissa_follicle1.32158017
67MP0008004_abnormal_stomach_pH1.31061727
68MP0005023_abnormal_wound_healing1.30578068
69MP0002972_abnormal_cardiac_muscle1.30231561
70MP0008995_early_reproductive_senescence1.29435388
71MP0001529_abnormal_vocalization1.27850536
72MP0002269_muscular_atrophy1.27807648
73MP0005623_abnormal_meninges_morphology1.25924926
74MP0005620_abnormal_muscle_contractility1.25182435
75MP0004808_abnormal_hematopoietic_stem1.25014374
76MP0004084_abnormal_cardiac_muscle1.24134697
77MP0002332_abnormal_exercise_endurance1.22851715
78MP0001346_abnormal_lacrimal_gland1.21364805
79MP0003656_abnormal_erythrocyte_physiolo1.20564022
80MP0003786_premature_aging1.20282899
81MP0006292_abnormal_olfactory_placode1.20186638
82MP0002106_abnormal_muscle_physiology1.19097911
83MP0000767_abnormal_smooth_muscle1.16703471
84MP0003221_abnormal_cardiomyocyte_apopto1.16395375
85MP0008057_abnormal_DNA_replication1.15839803
86MP0001958_emphysema1.15731102
87MP0004215_abnormal_myocardial_fiber1.15234294
88MP0005257_abnormal_intraocular_pressure1.14190422
89MP0004087_abnormal_muscle_fiber1.13244510
90MP0003806_abnormal_nucleotide_metabolis1.12750353
91MP0002254_reproductive_system_inflammat1.12647054
92MP0003890_abnormal_embryonic-extraembry1.11994279
93MP0005646_abnormal_pituitary_gland1.11730960
94MP0005503_abnormal_tendon_morphology1.11310984
95MP0000759_abnormal_skeletal_muscle1.11117456
96MP0002006_tumorigenesis1.10772217
97MP0005058_abnormal_lysosome_morphology1.10606161
98MP0003137_abnormal_impulse_conducting1.08783545
99MP0000858_altered_metastatic_potential1.08492217
100MP0005395_other_phenotype1.08461314
101MP0000609_abnormal_liver_physiology1.07767888
102MP0005365_abnormal_bile_salt1.06047490
103MP0001614_abnormal_blood_vessel1.05692782
104MP0002160_abnormal_reproductive_system1.05429756
105MP0004036_abnormal_muscle_relaxation1.05053644
106MP0005332_abnormal_amino_acid0.99749120
107MP0010307_abnormal_tumor_latency0.98973820
108MP0000358_abnormal_cell_content/0.98440329
109MP0005410_abnormal_fertilization0.98285587
110MP0002086_abnormal_extraembryonic_tissu0.98220379
111MP0002925_abnormal_cardiovascular_devel0.97922505
112MP0002127_abnormal_cardiovascular_syste0.97382910
113MP0001929_abnormal_gametogenesis0.95898699
114MP0010329_abnormal_lipoprotein_level0.95023666
115MP0003763_abnormal_thymus_physiology0.94854002
116MP0008775_abnormal_heart_ventricle0.94381037
117MP0005187_abnormal_penis_morphology0.94079954
118MP0000249_abnormal_blood_vessel0.92810704
119MP0005379_endocrine/exocrine_gland_phen0.92705946
120MP0001293_anophthalmia0.92186101
121MP0004130_abnormal_muscle_cell0.89956163
122MP0006138_congestive_heart_failure0.89300082
123MP0002088_abnormal_embryonic_growth/wei0.89040978
124MP0000013_abnormal_adipose_tissue0.88961906
125MP0005397_hematopoietic_system_phenotyp0.88451455
126MP0001545_abnormal_hematopoietic_system0.88451455
127MP0002234_abnormal_pharynx_morphology0.88365252
128MP0001672_abnormal_embryogenesis/_devel0.88284536
129MP0005380_embryogenesis_phenotype0.88284536
130MP0003453_abnormal_keratinocyte_physiol0.87688816
131MP0004484_altered_response_of0.87611346
132MP0002108_abnormal_muscle_morphology0.86724418
133MP0001533_abnormal_skeleton_physiology0.86398196
134MP0001175_abnormal_lung_morphology0.86168651
135MP0005174_abnormal_tail_pigmentation0.86147907
136MP0005085_abnormal_gallbladder_physiolo0.85654519
137MP0002210_abnormal_sex_determination0.85313517
138MP0001730_embryonic_growth_arrest0.84941756
139MP0003436_decreased_susceptibility_to0.84902857
140MP0003984_embryonic_growth_retardation0.84801758
141MP0004883_abnormal_blood_vessel0.84555593
142MP0003828_pulmonary_edema0.83448120
143MP0002295_abnormal_pulmonary_circulatio0.83139252
144MP0005666_abnormal_adipose_tissue0.83065784
145MP0005451_abnormal_body_composition0.82823821
146MP0005670_abnormal_white_adipose0.82821246
147MP0000343_altered_response_to0.82421399
148MP0002089_abnormal_postnatal_growth/wei0.82065033
149MP0001145_abnormal_male_reproductive0.82049439
150MP0002085_abnormal_embryonic_tissue0.81380179
151MP0005551_abnormal_eye_electrophysiolog0.81311546
152MP0005369_muscle_phenotype0.80622623
153MP0001697_abnormal_embryo_size0.79955718
154MP0002128_abnormal_blood_circulation0.79430965
155MP0000653_abnormal_sex_gland0.79006286
156MP0005508_abnormal_skeleton_morphology0.77974469
157MP0003111_abnormal_nucleus_morphology0.75435625
158MP0010630_abnormal_cardiac_muscle0.74372335
159MP0005310_abnormal_salivary_gland0.73112532
160MP0002095_abnormal_skin_pigmentation0.72601615
161MP0008877_abnormal_DNA_methylation0.72214720
162MP0003315_abnormal_perineum_morphology0.71890975
163MP0002084_abnormal_developmental_patter0.71535102
164MP0001544_abnormal_cardiovascular_syste0.71273725
165MP0005385_cardiovascular_system_phenoty0.71273725
166MP0005166_decreased_susceptibility_to0.70757005
167MP0002168_other_aberrant_phenotype0.70667893
168MP0005390_skeleton_phenotype0.70598198
169MP0004085_abnormal_heartbeat0.70349457
170MP0003699_abnormal_female_reproductive0.69840274
171MP0001324_abnormal_eye_pigmentation0.67984740
172MP0005391_vision/eye_phenotype0.67704583
173MP0008875_abnormal_xenobiotic_pharmacok0.67159404

Predicted human phenotypes

RankGene SetZ-score
1Nemaline bodies (HP:0003798)5.97490782
2Muscle fiber inclusion bodies (HP:0100299)5.87162400
3Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)5.73498755
4Exercise-induced muscle cramps (HP:0003710)5.39630542
5Protrusio acetabuli (HP:0003179)4.85288163
6Increased connective tissue (HP:0009025)4.82394918
7Muscle hypertrophy of the lower extremities (HP:0008968)4.24527756
8Calf muscle hypertrophy (HP:0008981)4.18493407
9Muscle fiber splitting (HP:0003555)4.04996339
10Myoglobinuria (HP:0002913)3.76268769
11Exercise-induced myalgia (HP:0003738)3.66454674
12Myocardial infarction (HP:0001658)3.41460171
13Ankle contracture (HP:0006466)3.35223759
14Rimmed vacuoles (HP:0003805)3.32567407
15Cerebral aneurysm (HP:0004944)3.30064156
16Rhabdomyolysis (HP:0003201)3.23826472
17Broad metatarsal (HP:0001783)3.22380375
18Hepatic necrosis (HP:0002605)3.20431732
19Acute necrotizing encephalopathy (HP:0006965)3.13992647
20Distal arthrogryposis (HP:0005684)3.12941916
21Premature ovarian failure (HP:0008209)3.11248846
22Abnormality of the nasal mucosa (HP:0000433)3.08801920
23Acute encephalopathy (HP:0006846)3.05287480
24Generalized aminoaciduria (HP:0002909)3.05135075
25Esophageal varix (HP:0002040)3.02708477
26Hepatocellular necrosis (HP:0001404)3.00112958
27Round ear (HP:0100830)2.98620895
28Absent hand (HP:0004050)2.98612379
29Mitral valve prolapse (HP:0001634)2.97654985
30Polycythemia (HP:0001901)2.95113308
31Increased CSF lactate (HP:0002490)2.94980303
32Spontaneous hematomas (HP:0007420)2.92824232
33Abnormality of the calf musculature (HP:0001430)2.92204217
34Cortical dysplasia (HP:0002539)2.90890625
35Abnormal mitochondria in muscle tissue (HP:0008316)2.88938252
36Hemorrhage of the eye (HP:0011885)2.86339262
37Menorrhagia (HP:0000132)2.79578820
38Duplicated collecting system (HP:0000081)2.77894377
39Hyperglycinemia (HP:0002154)2.76820215
40EMG: myopathic abnormalities (HP:0003458)2.76339804
41Mitochondrial inheritance (HP:0001427)2.76084270
42Premature rupture of membranes (HP:0001788)2.73202607
43Aneurysm (HP:0002617)2.72842800
44Type I transferrin isoform profile (HP:0003642)2.68798170
45Reduced antithrombin III activity (HP:0001976)2.66105330
46Cerebral edema (HP:0002181)2.65333724
47Bladder diverticulum (HP:0000015)2.65150477
48Joint hemorrhage (HP:0005261)2.64671012
49Progressive macrocephaly (HP:0004481)2.62267980
50Aortic dissection (HP:0002647)2.62222697
51Wrist flexion contracture (HP:0001239)2.60511392
52Hyporeflexia of lower limbs (HP:0002600)2.60040695
53Increased hepatocellular lipid droplets (HP:0006565)2.57514564
54Lipid accumulation in hepatocytes (HP:0006561)2.57274868
55Type 1 muscle fiber predominance (HP:0003803)2.55703890
56Rectal prolapse (HP:0002035)2.55249299
57Increased variability in muscle fiber diameter (HP:0003557)2.54405016
58Hematochezia (HP:0002573)2.54287553
59Striae distensae (HP:0001065)2.52887721
60Hyperglycinuria (HP:0003108)2.50874422
61Distal lower limb amyotrophy (HP:0008944)2.46753998
62Lactic acidosis (HP:0003128)2.43715792
63Absent phalangeal crease (HP:0006109)2.42771185
64Secondary amenorrhea (HP:0000869)2.39772804
65Increased intramyocellular lipid droplets (HP:0012240)2.39125627
66Neck muscle weakness (HP:0000467)2.38711520
67Difficulty climbing stairs (HP:0003551)2.37747384
68Anomalous pulmonary venous return (HP:0010772)2.36406177
69Pseudobulbar signs (HP:0002200)2.36237125
70Abnormality of fatty-acid metabolism (HP:0004359)2.35327480
71Exercise intolerance (HP:0003546)2.34629171
72Progressive muscle weakness (HP:0003323)2.34429122
73Adactyly (HP:0009776)2.33377015
74Shallow orbits (HP:0000586)2.31760635
75Increased serum pyruvate (HP:0003542)2.31136114
76Hypoalphalipoproteinemia (HP:0003233)2.30473926
77Genu recurvatum (HP:0002816)2.29816032
78Myopathic facies (HP:0002058)2.29031534
79Abnormality of skeletal muscle fiber size (HP:0012084)2.29010347
80Abnormal protein N-linked glycosylation (HP:0012347)2.27201464
81Abnormal protein glycosylation (HP:0012346)2.27201464
82Abnormal glycosylation (HP:0012345)2.27201464
83Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.27201464
84Increased serum lactate (HP:0002151)2.26788496
85Renal cortical cysts (HP:0000803)2.26459401
86Malignant hyperthermia (HP:0002047)2.23876905
87Glycosuria (HP:0003076)2.23676429
88Abnormality of urine glucose concentration (HP:0011016)2.23676429
89Abnormality of the anterior horn cell (HP:0006802)2.23089206
90Degeneration of anterior horn cells (HP:0002398)2.23089206
91Abnormality of the vasculature of the conjunctiva (HP:0008054)2.22573643
92Abnormality of glycine metabolism (HP:0010895)2.22388406
93Abnormality of serine family amino acid metabolism (HP:0010894)2.22388406
94Chromsome breakage (HP:0040012)2.22224658
95Abnormality of the 4th metacarpal (HP:0010012)2.21564264
96Hemiplegia (HP:0002301)2.21429522
97Chromosomal breakage induced by crosslinking agents (HP:0003221)2.20240436
98Cardiovascular calcification (HP:0011915)2.20047252
99Renal Fanconi syndrome (HP:0001994)2.20009933
100Spondylolisthesis (HP:0003302)2.19033724
101Reticulocytopenia (HP:0001896)2.18770584
102Abnormality of methionine metabolism (HP:0010901)2.18262359
103Deformed tarsal bones (HP:0008119)2.17957646
104Deep venous thrombosis (HP:0002625)2.17454274
105Porencephaly (HP:0002132)2.17064194
106Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.16871590
107Abnormality of alanine metabolism (HP:0010916)2.16871590
108Hyperalaninemia (HP:0003348)2.16871590
109Xanthomatosis (HP:0000991)2.16606574
110CNS demyelination (HP:0007305)2.16308902
111Spinal rigidity (HP:0003306)2.15464814
112Skull defect (HP:0001362)2.15121080
113Methylmalonic acidemia (HP:0002912)2.14421995
114Nasal polyposis (HP:0100582)2.14209733
115Cervical subluxation (HP:0003308)2.12570765
116Subaortic stenosis (HP:0001682)2.10862587
117Abnormality of the left ventricular outflow tract (HP:0011103)2.10862587
118Abnormality of the renal collecting system (HP:0004742)2.10535337
119Lethargy (HP:0001254)2.10166105
120Delayed CNS myelination (HP:0002188)2.10121135
121Intrahepatic cholestasis (HP:0001406)2.10110621
122Polygenic inheritance (HP:0010982)2.09782703
123Vertebral fusion (HP:0002948)2.08147066
124Calcaneovalgus deformity (HP:0001848)2.07879628
125Male infertility (HP:0003251)2.07357564
126Palpitations (HP:0001962)2.07273598
127Abnormality of glycolysis (HP:0004366)2.05645039
128Dilatation of the ascending aorta (HP:0005111)2.04107966
129Respiratory failure (HP:0002878)2.03358829
130Ulnar deviation of the wrist (HP:0003049)2.02072681
131Aortic aneurysm (HP:0004942)2.01869254
132Thin bony cortex (HP:0002753)2.01575588
133Abnormality of chromosome stability (HP:0003220)2.01526552
134Proximal tubulopathy (HP:0000114)2.01310619
135Facial diplegia (HP:0001349)2.00674823
136Conjunctival telangiectasia (HP:0000524)2.00031884
137Abnormality of the pulmonary veins (HP:0011718)1.99633932
138Pancreatic islet-cell hyperplasia (HP:0004510)1.99588252
139Hypoglycemic coma (HP:0001325)1.98836292
140Myotonia (HP:0002486)1.98058946
141Abnormality of the Achilles tendon (HP:0005109)1.97939136
142Increased muscle lipid content (HP:0009058)1.96607333
143Decreased activity of mitochondrial respiratory chain (HP:0008972)1.96115928
144Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.96115928
145Achilles tendon contracture (HP:0001771)1.95146189
146Abnormal platelet function (HP:0011869)1.94422861
147Impaired platelet aggregation (HP:0003540)1.94422861
148Central scotoma (HP:0000603)1.94420879
149Abnormal finger flexion creases (HP:0006143)1.94057742
150Shoulder girdle muscle weakness (HP:0003547)1.91130705
1513-Methylglutaconic aciduria (HP:0003535)1.91103380
152Meckel diverticulum (HP:0002245)1.91028757
153Frequent falls (HP:0002359)1.90924791
154Overgrowth (HP:0001548)1.90072047
155Abnormality of serum amino acid levels (HP:0003112)1.88362408
156Gout (HP:0001997)1.86921324
157Muscle fibrillation (HP:0010546)1.86068529
158Slender build (HP:0001533)1.85506527
159Thin ribs (HP:0000883)1.84762080
160Abnormality of the anterior chamber (HP:0000593)1.84488287
161Aplasia/Hypoplasia of the uvula (HP:0010293)1.84429356
162Stroke (HP:0001297)1.83614965
163Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.83561223
164Hyperinsulinemic hypoglycemia (HP:0000825)1.83155898
165Lower limb amyotrophy (HP:0007210)1.82980973
166Subcapsular cataract (HP:0000523)1.82548517
167Abnormality of the ileum (HP:0001549)1.82382725
168Hyperextensible skin (HP:0000974)1.82166075
169Metabolic acidosis (HP:0001942)1.78322225
170Large hands (HP:0001176)1.78214370
171Sudden death (HP:0001699)1.77712410
172Camptodactyly of toe (HP:0001836)1.76973224
173Pulmonary artery stenosis (HP:0004415)1.76923239
174Hypolipoproteinemia (HP:0010981)1.76735149
175Lack of skin elasticity (HP:0100679)1.75974866
176Dicarboxylic aciduria (HP:0003215)1.75683748
177Abnormality of dicarboxylic acid metabolism (HP:0010995)1.75683748
178Centrally nucleated skeletal muscle fibers (HP:0003687)1.75402244
179Rib fusion (HP:0000902)1.75391969
180Neoplasm of the oral cavity (HP:0100649)1.74430881
181Dilated cardiomyopathy (HP:0001644)1.72998556
182Type 2 muscle fiber atrophy (HP:0003554)1.72900032
183Bundle branch block (HP:0011710)1.72586939
184Abnormality of the level of lipoprotein cholesterol (HP:0010979)1.72331971
185Autoimmune thrombocytopenia (HP:0001973)1.71509342
186Soft skin (HP:0000977)1.71357113
187Abnormality of aspartate family amino acid metabolism (HP:0010899)1.70499326
188Ureteral duplication (HP:0000073)1.68909072
189Generalized muscle weakness (HP:0003324)1.67959963
190Hypoplasia of the iris (HP:0007676)1.67899797
191Depressed nasal tip (HP:0000437)1.66084965
192Flat cornea (HP:0007720)1.65423019
193Popliteal pterygium (HP:0009756)1.65337126
194Short 4th metacarpal (HP:0010044)1.64349672
195Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.64349672
196Joint contractures involving the joints of the feet (HP:0100492)1.62344540

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TLK18.29379144
2OBSCN5.06731792
3ZAK4.90253444
4EIF2AK33.37104305
5PBK3.01884730
6NEK12.94017364
7LATS12.84543680
8EPHA22.79353597
9TIE12.75400928
10BUB12.59233098
11PLK42.54753210
12SRPK12.53528217
13VRK12.51290392
14EIF2AK12.50020376
15PHKG12.45591318
16PHKG22.45591318
17CDK122.44637145
18MAP4K22.37155055
19LATS22.32547372
20KSR22.19311511
21PINK12.17049350
22BCKDK2.14515455
23MAP3K62.13091842
24WEE12.12915613
25CDC72.12035810
26TRIM281.99622704
27PRKD31.94131083
28PDK21.93494921
29VRK21.84262590
30RIPK11.82277579
31ERBB31.80242854
32STK161.76631252
33ERBB41.75096762
34MAP3K101.65400429
35TTK1.65083792
36PIM11.60725999
37MAP3K91.54051189
38EPHB11.50109495
39TGFBR21.46687127
40NME11.45882781
41NUAK11.41999454
42TRIB31.40637197
43RPS6KA51.37185818
44BRSK21.36137796
45ACVR1B1.35912079
46EEF2K1.35453800
47PLK31.35438254
48MAP4K11.33971451
49MAP3K31.32916423
50WNK31.32058741
51PKN11.30410321
52PKN21.30275970
53STK31.29098846
54TSSK61.28002652
55JAK21.26504115
56CCNB11.26003497
57BMPR1B1.25639249
58STK41.24952267
59PIK3CG1.18559014
60ICK1.17091956
61PLK11.16006061
62FRK1.14655531
63MAP3K131.13643133
64RPS6KA41.13028692
65MUSK1.10070540
66PAK41.09692697
67NEK91.09364331
68CDK81.08844730
69MST41.08211347
70PNCK1.07775903
71CDK91.06350862
72STK101.05154726
73GRK11.04989981
74NME21.04161166
75ERN11.01008829
76KDR0.99104685
77PDGFRA0.98988480
78SCYL20.95460304
79FGFR40.92440296
80CDK30.91906263
81TTN0.91888746
82CSNK1G10.91706833
83SIK10.91502624
84PIM20.90617011
85BCR0.90434125
86MKNK10.88516556
87TAF10.87188811
88TYK20.84128278
89CSNK1G30.83996133
90DAPK30.80095342
91PLK20.78776456
92MAP3K80.78760355
93CDK70.77868379
94CSNK1G20.76867662
95JAK30.76047513
96STK390.75791246
97EIF2AK20.75541272
98FLT30.74652972
99STK38L0.73675000
100JAK10.72659229
101LIMK10.70692364
102AURKB0.69697131
103PASK0.68631065
104ATR0.68630948
105RET0.64976589
106MAP2K30.64604669
107STK380.63609357
108CDK40.63070646
109NEK20.62670311
110TYRO30.61829274
111MAPKAPK30.60457209
112CSNK1A1L0.58822404
113ATM0.58665140
114IRAK20.57741332
115CSK0.57326252
116OXSR10.55617280
117DMPK0.55307769
118TGFBR10.55206598
119HIPK20.55019906
120CSNK2A10.53626683
121MTOR0.52214155
122PRKD20.52133978
123MAPK110.51872422
124STK110.50923226
125MAP3K20.50386195
126PRKCH0.50330041
127PRKCI0.50210707
128PRKCE0.50085873
129CSNK2A20.49671038
130BMPR20.49410493
131GRK60.49073134
132CAMK40.48139684
133PTK2B0.47812431
134PAK10.47229754
135TRPM70.47191897
136PDGFRB0.46447744
137TAOK10.46431461
138MOS0.45128680
139PAK60.44800400
140FGR0.44034769
141CHEK10.44027645
142CHEK20.44020481
143RAF10.43221540
144MET0.42674975
145STK240.42393996
146BMX0.42238851
147PTK20.41674840
148MAP3K10.41535767
149CLK10.40455749
150MAP3K40.40296275
151CAMK2D0.39946551
152ALK0.39495987
153HCK0.38938108
154PRKD10.38085023
155MELK0.37873844
156FES0.37683829
157BRSK10.37650731
158MAP2K60.37193292
159MKNK20.34389761
160PRKAA10.34248083
161RPS6KB20.33945956
162ADRBK20.33613360
163AURKA0.33328144
164PTK60.32669880
165GSK3A0.32532561
166KSR10.32082522
167FGFR30.31576054
168AKT20.31090495
169PRKG20.31020421
170MARK30.28133666
171PRKACB0.27897624
172ZAP700.27831842
173RPS6KB10.27762584
174CAMK2G0.27388016
175CDK60.27143622
176ITK0.26481179
177MARK20.26245852
178TAOK30.26142205
179CDK10.25978205
180FER0.25842021

Predicted pathways (KEGG)

RankGene SetZ-score
1Systemic lupus erythematosus_Homo sapiens_hsa053227.57970754
2Alcoholism_Homo sapiens_hsa050343.78693820
3Oxidative phosphorylation_Homo sapiens_hsa001902.72745772
4Vitamin B6 metabolism_Homo sapiens_hsa007502.72291378
5Mismatch repair_Homo sapiens_hsa034302.70029407
6Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.62633539
7DNA replication_Homo sapiens_hsa030302.56938713
8Proteasome_Homo sapiens_hsa030502.53222357
9Malaria_Homo sapiens_hsa051442.46407901
10Propanoate metabolism_Homo sapiens_hsa006402.37152126
11Parkinsons disease_Homo sapiens_hsa050122.33738409
12Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.26986141
13Homologous recombination_Homo sapiens_hsa034402.26509034
14Dorso-ventral axis formation_Homo sapiens_hsa043202.24469300
15Protein export_Homo sapiens_hsa030602.22641842
16Ribosome_Homo sapiens_hsa030102.20442897
17Non-homologous end-joining_Homo sapiens_hsa034502.14553432
18Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.13440557
19Viral carcinogenesis_Homo sapiens_hsa052032.10656865
20Notch signaling pathway_Homo sapiens_hsa043301.97886585
21Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.97571812
22Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.85872200
23ECM-receptor interaction_Homo sapiens_hsa045121.85475523
24Fatty acid elongation_Homo sapiens_hsa000621.80504293
25Nucleotide excision repair_Homo sapiens_hsa034201.79266972
26One carbon pool by folate_Homo sapiens_hsa006701.77170329
27Carbon metabolism_Homo sapiens_hsa012001.73846411
28Fanconi anemia pathway_Homo sapiens_hsa034601.73539153
29Pyruvate metabolism_Homo sapiens_hsa006201.72071968
30Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.71672721
31Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.67243720
32Arginine biosynthesis_Homo sapiens_hsa002201.65084502
33Cardiac muscle contraction_Homo sapiens_hsa042601.60163115
34Staphylococcus aureus infection_Homo sapiens_hsa051501.59679064
35RNA degradation_Homo sapiens_hsa030181.58402676
36Lysine degradation_Homo sapiens_hsa003101.53781713
37mTOR signaling pathway_Homo sapiens_hsa041501.51851776
38Huntingtons disease_Homo sapiens_hsa050161.50706445
39Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.48070980
40Primary bile acid biosynthesis_Homo sapiens_hsa001201.47956452
41Base excision repair_Homo sapiens_hsa034101.46494936
42RNA polymerase_Homo sapiens_hsa030201.45814918
43Alzheimers disease_Homo sapiens_hsa050101.44781606
44Bile secretion_Homo sapiens_hsa049761.44727359
45Nitrogen metabolism_Homo sapiens_hsa009101.37297128
46Basal transcription factors_Homo sapiens_hsa030221.36851607
47Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.34836734
48Fatty acid metabolism_Homo sapiens_hsa012121.30715223
49Pyrimidine metabolism_Homo sapiens_hsa002401.28128183
50Purine metabolism_Homo sapiens_hsa002301.27194764
51African trypanosomiasis_Homo sapiens_hsa051431.26959564
52Peroxisome_Homo sapiens_hsa041461.21459201
53Small cell lung cancer_Homo sapiens_hsa052221.20402723
54Butanoate metabolism_Homo sapiens_hsa006501.20360492
55Arginine and proline metabolism_Homo sapiens_hsa003301.17867812
56Spliceosome_Homo sapiens_hsa030401.17822054
57Glutathione metabolism_Homo sapiens_hsa004801.17777399
58Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.16471939
59Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.15741604
60Bladder cancer_Homo sapiens_hsa052191.15315712
61Focal adhesion_Homo sapiens_hsa045101.15073246
62MicroRNAs in cancer_Homo sapiens_hsa052061.14313485
63Ovarian steroidogenesis_Homo sapiens_hsa049131.12491015
64Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.10889610
65Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.10543763
66Transcriptional misregulation in cancer_Homo sapiens_hsa052021.05770862
67Steroid biosynthesis_Homo sapiens_hsa001001.04856689
68Adherens junction_Homo sapiens_hsa045201.02214015
69Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.01335719
70Complement and coagulation cascades_Homo sapiens_hsa046101.00260741
71AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.99555081
72Prion diseases_Homo sapiens_hsa050200.99226192
732-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.97571121
74Pentose and glucuronate interconversions_Homo sapiens_hsa000400.96437081
75Pentose phosphate pathway_Homo sapiens_hsa000300.96288051
76VEGF signaling pathway_Homo sapiens_hsa043700.89845111
77Cell cycle_Homo sapiens_hsa041100.89817839
78Protein digestion and absorption_Homo sapiens_hsa049740.89767582
79RNA transport_Homo sapiens_hsa030130.89695437
80Selenocompound metabolism_Homo sapiens_hsa004500.89683251
81Metabolic pathways_Homo sapiens_hsa011000.89577865
82Longevity regulating pathway - mammal_Homo sapiens_hsa042110.86405239
83Sulfur metabolism_Homo sapiens_hsa009200.83448461
84Tyrosine metabolism_Homo sapiens_hsa003500.83177882
85Insulin resistance_Homo sapiens_hsa049310.82379796
86Amoebiasis_Homo sapiens_hsa051460.82033567
87Regulation of autophagy_Homo sapiens_hsa041400.78933671
88beta-Alanine metabolism_Homo sapiens_hsa004100.74008958
89HTLV-I infection_Homo sapiens_hsa051660.73369945
90Biosynthesis of amino acids_Homo sapiens_hsa012300.72583157
91Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.72463565
92Pancreatic cancer_Homo sapiens_hsa052120.72250797
93Dilated cardiomyopathy_Homo sapiens_hsa054140.71018542
94Insulin signaling pathway_Homo sapiens_hsa049100.70651686
95TNF signaling pathway_Homo sapiens_hsa046680.69856859
96Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.69076435
97PI3K-Akt signaling pathway_Homo sapiens_hsa041510.66380617
98Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.66349468
99Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.66309838
100Prolactin signaling pathway_Homo sapiens_hsa049170.65742820
101GnRH signaling pathway_Homo sapiens_hsa049120.63215565
102Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.62638071
103Chronic myeloid leukemia_Homo sapiens_hsa052200.62254467
104Viral myocarditis_Homo sapiens_hsa054160.61734245
105Adipocytokine signaling pathway_Homo sapiens_hsa049200.61484158
106Renal cell carcinoma_Homo sapiens_hsa052110.60839658
107PPAR signaling pathway_Homo sapiens_hsa033200.59865896
108Osteoclast differentiation_Homo sapiens_hsa043800.59524692
109HIF-1 signaling pathway_Homo sapiens_hsa040660.59104567
110Colorectal cancer_Homo sapiens_hsa052100.58713730
111Oocyte meiosis_Homo sapiens_hsa041140.55428199
112Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.55228397
113Circadian rhythm_Homo sapiens_hsa047100.54265007
114Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.53652777
115Tryptophan metabolism_Homo sapiens_hsa003800.52823055
116Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.52800997
117Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.52797500
118Fatty acid degradation_Homo sapiens_hsa000710.52743208
119Regulation of actin cytoskeleton_Homo sapiens_hsa048100.52552259
120Non-small cell lung cancer_Homo sapiens_hsa052230.52353334
121Estrogen signaling pathway_Homo sapiens_hsa049150.52012284
122mRNA surveillance pathway_Homo sapiens_hsa030150.50777934
123Drug metabolism - other enzymes_Homo sapiens_hsa009830.49740812
124Melanoma_Homo sapiens_hsa052180.49630557
125Rap1 signaling pathway_Homo sapiens_hsa040150.47904043
126Apoptosis_Homo sapiens_hsa042100.47261633
127Platelet activation_Homo sapiens_hsa046110.47053932
128Leukocyte transendothelial migration_Homo sapiens_hsa046700.46902704
129Other glycan degradation_Homo sapiens_hsa005110.46854796
130Lysosome_Homo sapiens_hsa041420.46454885
131Central carbon metabolism in cancer_Homo sapiens_hsa052300.45527614
132Hepatitis B_Homo sapiens_hsa051610.44597107
133Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.44210833
134Folate biosynthesis_Homo sapiens_hsa007900.43723840
135Toxoplasmosis_Homo sapiens_hsa051450.43541718
136Caffeine metabolism_Homo sapiens_hsa002320.43537093
137T cell receptor signaling pathway_Homo sapiens_hsa046600.43496606
138N-Glycan biosynthesis_Homo sapiens_hsa005100.43403428
139Proteoglycans in cancer_Homo sapiens_hsa052050.42559600
140Influenza A_Homo sapiens_hsa051640.41477063
141Type II diabetes mellitus_Homo sapiens_hsa049300.41186937
142Thyroid hormone signaling pathway_Homo sapiens_hsa049190.40524116
143Retinol metabolism_Homo sapiens_hsa008300.39496383
144Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.39358627
145Cysteine and methionine metabolism_Homo sapiens_hsa002700.39237411
146Fructose and mannose metabolism_Homo sapiens_hsa000510.38572539
147Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.37939911
148Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.37754634
149Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.36908986
150Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.36823810
151Glucagon signaling pathway_Homo sapiens_hsa049220.36596855
152Steroid hormone biosynthesis_Homo sapiens_hsa001400.35235945
153Maturity onset diabetes of the young_Homo sapiens_hsa049500.34500449
154Acute myeloid leukemia_Homo sapiens_hsa052210.33818308
155Shigellosis_Homo sapiens_hsa051310.33791814
156Phototransduction_Homo sapiens_hsa047440.33682815
157ABC transporters_Homo sapiens_hsa020100.33646624
158Phenylalanine metabolism_Homo sapiens_hsa003600.33402950
159Endometrial cancer_Homo sapiens_hsa052130.32857838
160Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.32545957
161Sulfur relay system_Homo sapiens_hsa041220.32397804
162Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.31895023
163Inositol phosphate metabolism_Homo sapiens_hsa005620.31624022
164p53 signaling pathway_Homo sapiens_hsa041150.31578271
165Glioma_Homo sapiens_hsa052140.31290029
166Fat digestion and absorption_Homo sapiens_hsa049750.31128174
167Pathways in cancer_Homo sapiens_hsa052000.29648314
168Chemical carcinogenesis_Homo sapiens_hsa052040.28966275
169Phospholipase D signaling pathway_Homo sapiens_hsa040720.28614190
170Collecting duct acid secretion_Homo sapiens_hsa049660.27377974
171TGF-beta signaling pathway_Homo sapiens_hsa043500.27073457
172Starch and sucrose metabolism_Homo sapiens_hsa005000.25380685
173Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.24087185
174Fatty acid biosynthesis_Homo sapiens_hsa000610.18831438

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