GPD1L

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: The protein encoded by this gene catalyzes the conversion of sn-glycerol 3-phosphate to glycerone phosphate. The encoded protein is found in the cytoplasm, associated with the plasma membrane, where it binds the sodium channel, voltage-gated, type V, alpha subunit (SCN5A). Defects in this gene are a cause of Brugada syndrome type 2 (BRS2) as well as sudden infant death syndrome (SIDS). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1actin-myosin filament sliding (GO:0033275)8.77378504
2muscle filament sliding (GO:0030049)8.77378504
3sarcoplasmic reticulum calcium ion transport (GO:0070296)7.82579143
4purine nucleobase biosynthetic process (GO:0009113)7.26669051
5actin-mediated cell contraction (GO:0070252)7.20871996
6regulation of relaxation of muscle (GO:1901077)6.94651569
7sarcomere organization (GO:0045214)6.93545433
8ribosome assembly (GO:0042255)6.67540084
9positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.67033299
10skeletal muscle contraction (GO:0003009)6.61272212
11striated muscle contraction (GO:0006941)6.37411691
12vitamin transmembrane transport (GO:0035461)6.35864505
13myofibril assembly (GO:0030239)6.32504841
14cardiac muscle contraction (GO:0060048)6.29567271
15nucleobase biosynthetic process (GO:0046112)6.29523526
16regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.26944991
17regulation of actin filament-based movement (GO:1903115)5.84892939
18cardiac myofibril assembly (GO:0055003)5.74203214
19folic acid metabolic process (GO:0046655)5.69222664
20response to stimulus involved in regulation of muscle adaptation (GO:0014874)5.59925882
21regulation of cell communication by electrical coupling (GO:0010649)5.57226292
22regulation of skeletal muscle contraction (GO:0014819)5.53334904
23actin filament-based movement (GO:0030048)5.48925539
24folic acid transport (GO:0015884)5.47798207
25regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO5.46279772
26mitotic metaphase plate congression (GO:0007080)5.42121203
27creatine metabolic process (GO:0006600)5.27007408
28regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.26210873
29regulation of attachment of spindle microtubules to kinetochore (GO:0051988)5.25552555
30cardiac muscle hypertrophy (GO:0003300)5.24171831
31regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.23737426
32negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.14125779
33regulation of spindle organization (GO:0090224)5.11862366
34pantothenate metabolic process (GO:0015939)5.08763473
35striated muscle hypertrophy (GO:0014897)5.03464588
36actomyosin structure organization (GO:0031032)4.98385130
37ribosome biogenesis (GO:0042254)4.89062670
38negative regulation of potassium ion transmembrane transport (GO:1901380)4.71095415
39CDP-diacylglycerol metabolic process (GO:0046341)4.69127174
40skeletal muscle adaptation (GO:0043501)4.63587001
41carnitine shuttle (GO:0006853)4.62938446
42cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.62063942
43GMP metabolic process (GO:0046037)4.61440083
44proteasome assembly (GO:0043248)4.57248206
45rRNA modification (GO:0000154)4.55632392
46DNA replication checkpoint (GO:0000076)4.52819470
47muscle hypertrophy (GO:0014896)4.48900965
48muscle contraction (GO:0006936)4.47159281
49response to inactivity (GO:0014854)4.46482817
50amino acid salvage (GO:0043102)4.44928344
51L-methionine salvage (GO:0071267)4.44928344
52L-methionine biosynthetic process (GO:0071265)4.44928344
53glycine metabolic process (GO:0006544)4.34706620
54autophagic vacuole assembly (GO:0000045)4.33203415
55regulation of the force of heart contraction (GO:0002026)4.32881952
56positive regulation of chromosome segregation (GO:0051984)4.32204474
57lung-associated mesenchyme development (GO:0060484)4.32168896
58regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.31396620
59positive regulation of calcium ion transmembrane transporter activity (GO:1901021)4.29528557
60termination of RNA polymerase III transcription (GO:0006386)4.26784289
61transcription elongation from RNA polymerase III promoter (GO:0006385)4.26784289
62regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)4.23031424
63regulation of striated muscle contraction (GO:0006942)4.17007956
64regulation of translational termination (GO:0006449)4.16747775
65intestinal epithelial cell development (GO:0060576)4.11224868
66* NADH metabolic process (GO:0006734)4.08148024
67striated muscle adaptation (GO:0014888)4.07327210
68regulation of G0 to G1 transition (GO:0070316)4.06934402
69cardiac muscle tissue morphogenesis (GO:0055008)4.06922567
70transcription elongation from RNA polymerase I promoter (GO:0006362)4.05767221
71muscle system process (GO:0003012)4.04528193
72glycogen catabolic process (GO:0005980)4.02963619
73regulation of translation in response to stress (GO:0043555)4.01299492
74serine family amino acid catabolic process (GO:0009071)3.98946389
75termination of RNA polymerase I transcription (GO:0006363)3.98677186
76anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.95957280
77cell communication involved in cardiac conduction (GO:0086065)3.95150445
78modified amino acid transport (GO:0072337)3.95143528
79regulation of mitotic spindle organization (GO:0060236)3.91296475
80relaxation of cardiac muscle (GO:0055119)3.90574797
81formation of translation preinitiation complex (GO:0001731)3.90017347
82metaphase plate congression (GO:0051310)3.89381514
83adult heart development (GO:0007512)3.87982417
84muscle tissue morphogenesis (GO:0060415)3.87944053
85regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.87714183
86glucan catabolic process (GO:0009251)3.85716935
87histone-serine phosphorylation (GO:0035404)3.85630560
88fatty acid transmembrane transport (GO:1902001)3.85089800
89tricarboxylic acid cycle (GO:0006099)3.84872714
90peptidyl-threonine dephosphorylation (GO:0035970)3.84036546
91cardiac muscle hypertrophy in response to stress (GO:0014898)3.83081083
92muscle hypertrophy in response to stress (GO:0003299)3.83081083
93cardiac muscle adaptation (GO:0014887)3.83081083
94S-adenosylmethionine metabolic process (GO:0046500)3.82789648
95response to muscle activity (GO:0014850)3.82180158
96positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.81118386
97transcription from RNA polymerase I promoter (GO:0006360)3.79588861
98regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.75686890
99carnitine transmembrane transport (GO:1902603)3.74440548
100regulation of calcium ion transmembrane transport (GO:1903169)3.73939200
101regulation of calcium ion transmembrane transporter activity (GO:1901019)3.73939200
102DNA deamination (GO:0045006)3.72274089
103membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.71984408
104regulation of cardiac muscle cell contraction (GO:0086004)3.70753261
105methionine metabolic process (GO:0006555)3.69700553
106cell communication by electrical coupling (GO:0010644)3.69637792
1077-methylguanosine mRNA capping (GO:0006370)3.66725851
108methionine biosynthetic process (GO:0009086)3.63385606
109cellular response to epinephrine stimulus (GO:0071872)3.63382960
110cardiac muscle cell development (GO:0055013)3.60187235
111blastocyst development (GO:0001824)3.59904155
112cellular polysaccharide catabolic process (GO:0044247)3.58390635
113relaxation of muscle (GO:0090075)3.53477742
114biotin metabolic process (GO:0006768)3.53262670
115spindle checkpoint (GO:0031577)3.52874727
116transcription initiation from RNA polymerase I promoter (GO:0006361)3.52771711
117CDP-diacylglycerol biosynthetic process (GO:0016024)3.52070898
118RNA capping (GO:0036260)3.49842978
1197-methylguanosine RNA capping (GO:0009452)3.49842978
120skeletal muscle fiber development (GO:0048741)3.49490777
121positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.48896749
122response to epinephrine (GO:0071871)3.48697475
123striated muscle atrophy (GO:0014891)3.47642050
124mitotic spindle checkpoint (GO:0071174)3.45765526
125amino-acid betaine transport (GO:0015838)3.45371650
126carnitine transport (GO:0015879)3.45371650
127protein localization to kinetochore (GO:0034501)3.43853861
128negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.43347294
129maturation of SSU-rRNA (GO:0030490)3.39892728
130regulation of membrane repolarization (GO:0060306)3.39700416
131regulation of chromosome segregation (GO:0051983)3.37526794
132ribonucleoprotein complex biogenesis (GO:0022613)3.36687932
133labyrinthine layer development (GO:0060711)3.36346727
134* ventricular cardiac muscle cell action potential (GO:0086005)3.35533530
135detection of calcium ion (GO:0005513)3.35006980
136ventricular cardiac muscle tissue morphogenesis (GO:0055010)3.34737248
137maturation of 5.8S rRNA (GO:0000460)3.34268383
138rRNA methylation (GO:0031167)3.34027953
1392-oxoglutarate metabolic process (GO:0006103)3.32852388
140cardiac cell development (GO:0055006)3.32506146
141positive regulation of autophagy (GO:0010508)3.31768675
142cofactor transport (GO:0051181)3.31749728
143vitamin transport (GO:0051180)3.29173388
144rRNA processing (GO:0006364)3.28661480
145sulfur amino acid biosynthetic process (GO:0000097)3.26333499
146myotube cell development (GO:0014904)3.25096515
147negative regulation of chromosome segregation (GO:0051985)3.23718919
148positive regulation of ligase activity (GO:0051351)3.23634696
149mitotic spindle assembly checkpoint (GO:0007094)3.23567244
150negative regulation of translational initiation (GO:0045947)3.22800607
151rRNA metabolic process (GO:0016072)3.21207067
152negative regulation of macroautophagy (GO:0016242)3.20678651
153spliceosomal snRNP assembly (GO:0000387)3.20643706
154polysaccharide catabolic process (GO:0000272)3.20306019
155activation of protein kinase A activity (GO:0034199)3.20299464
156negative regulation of mitotic sister chromatid separation (GO:2000816)3.19202041
157negative regulation of mitotic sister chromatid segregation (GO:0033048)3.19202041
158negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.19202041
159negative regulation of sister chromatid segregation (GO:0033046)3.19202041
160muscle adaptation (GO:0043500)3.19194327
161guanosine-containing compound biosynthetic process (GO:1901070)3.18138367
162positive regulation of cation channel activity (GO:2001259)3.16248758
163meiosis I (GO:0007127)3.15568737
164glycogen biosynthetic process (GO:0005978)3.15400213
165glucan biosynthetic process (GO:0009250)3.15400213
166skeletal muscle tissue regeneration (GO:0043403)3.15211035
167oxaloacetate metabolic process (GO:0006107)3.14928198
168DNA-templated transcription, elongation (GO:0006354)3.14817399
169muscle fiber development (GO:0048747)3.14172273
170mitotic nuclear envelope disassembly (GO:0007077)3.14162319
171L-serine metabolic process (GO:0006563)3.13418212
172regulation of sequestering of triglyceride (GO:0010889)3.12893222
173spindle assembly checkpoint (GO:0071173)3.12154582
174regulation of cardiac muscle contraction (GO:0055117)3.11544455
175attachment of spindle microtubules to kinetochore (GO:0008608)3.11227742
176regulation of exit from mitosis (GO:0007096)3.10861450
177negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.09529822
178negative regulation of calcium ion transmembrane transport (GO:1903170)3.09137361
179negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.09137361
180protein localization to chromosome, centromeric region (GO:0071459)3.06824659
181regulation of mitotic metaphase/anaphase transition (GO:0030071)3.05355060
182serine family amino acid metabolic process (GO:0009069)3.05255221
183* regulation of heart rate (GO:0002027)3.04970440
184nuclear envelope organization (GO:0006998)3.04492730
185regulation of ubiquitin-protein transferase activity (GO:0051438)3.02819143
186transcription elongation from RNA polymerase II promoter (GO:0006368)3.02717080
187response to xenobiotic stimulus (GO:0009410)3.02524763
188negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.01999658
189negative regulation of ligase activity (GO:0051352)3.01999658
190regulation of ATP catabolic process (GO:1903289)3.01872839
191regulation of ATPase activity (GO:0043462)3.01872839
192muscle atrophy (GO:0014889)3.00354672
193skeletal muscle tissue development (GO:0007519)2.99542368
194heart process (GO:0003015)2.99261950
195heart contraction (GO:0060047)2.99261950
196bundle of His cell to Purkinje myocyte communication (GO:0086069)2.98469773
197negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.97077984
198* regulation of heart contraction (GO:0008016)2.97005587
199regulation of muscle system process (GO:0090257)2.95914505
200plasma membrane repair (GO:0001778)2.95166254

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse5.43170448
2E2F7_22180533_ChIP-Seq_HELA_Human4.79795407
3FOXM1_23109430_ChIP-Seq_U2OS_Human3.98470892
4JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.69947803
5ETS1_20019798_ChIP-Seq_JURKAT_Human3.69926775
6ESR1_20079471_ChIP-ChIP_T-47D_Human3.57656435
7MYC_18555785_ChIP-Seq_MESCs_Mouse3.56342902
8CREB1_15753290_ChIP-ChIP_HEK293T_Human3.54956557
9KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.47338294
10ESR2_21235772_ChIP-Seq_MCF-7_Human3.15900478
11EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.03538780
12GABP_17652178_ChIP-ChIP_JURKAT_Human3.00028865
13TBX20_22080862_ChIP-Seq_HEART_Mouse2.99193634
14TBX20_22328084_ChIP-Seq_HEART_Mouse2.99193634
15MYC_19079543_ChIP-ChIP_MESCs_Mouse2.96944407
16ZNF263_19887448_ChIP-Seq_K562_Human2.89655809
17EST1_17652178_ChIP-ChIP_JURKAT_Human2.88828713
18CDX2_19796622_ChIP-Seq_MESCs_Mouse2.85980519
19PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.79525920
20EZH2_22144423_ChIP-Seq_EOC_Human2.77716057
21* MYC_18358816_ChIP-ChIP_MESCs_Mouse2.70926960
22AR_21909140_ChIP-Seq_LNCAP_Human2.68678508
23EP300_21415370_ChIP-Seq_HL-1_Mouse2.67238180
24MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.67079598
25CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.65794687
26E2F4_17652178_ChIP-ChIP_JURKAT_Human2.58189912
27MYC_19030024_ChIP-ChIP_MESCs_Mouse2.56849432
28TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.47281110
29BP1_19119308_ChIP-ChIP_Hs578T_Human2.41083381
30ESR1_21235772_ChIP-Seq_MCF-7_Human2.39273211
31* VDR_23849224_ChIP-Seq_CD4+_Human2.37712053
32RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.36111196
33FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.35120825
34PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.30664216
35THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.28444361
36TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.25090682
37NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.23570329
38GABP_19822575_ChIP-Seq_HepG2_Human2.17844554
39NANOG_18555785_ChIP-Seq_MESCs_Mouse2.16256651
40ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.14136669
41GATA1_22025678_ChIP-Seq_K562_Human2.11054446
42CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.08871570
43* TFAP2C_20629094_ChIP-Seq_MCF-7_Human2.08630456
44NELFA_20434984_ChIP-Seq_ESCs_Mouse2.05969959
45XRN2_22483619_ChIP-Seq_HELA_Human2.02395408
46POU5F1_18555785_ChIP-Seq_MESCs_Mouse2.02163235
47CLOCK_20551151_ChIP-Seq_293T_Human1.95596226
48YY1_21170310_ChIP-Seq_MESCs_Mouse1.91677756
49KDM5A_27292631_Chip-Seq_BREAST_Human1.89516261
50* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.88648568
51HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.85443207
52FOXP3_21729870_ChIP-Seq_TREG_Human1.83243990
53* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.73625628
54E2F1_18555785_ChIP-Seq_MESCs_Mouse1.71733291
55KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.70189908
56RARG_19884340_ChIP-ChIP_MEFs_Mouse1.69842522
57PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.68412226
58DCP1A_22483619_ChIP-Seq_HELA_Human1.68201782
59ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.67245294
60DROSHA_22980978_ChIP-Seq_HELA_Human1.64734402
61MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.64693603
62TRIM28_21343339_ChIP-Seq_HEK293_Human1.63793181
63CIITA_25753668_ChIP-Seq_RAJI_Human1.62857133
64* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.60837864
65CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.58386337
66NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.56945812
67RARB_27405468_Chip-Seq_BRAIN_Mouse1.55901894
68POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.54780378
69ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.53684140
70PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.52651375
71YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.51398530
72* FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.48623024
73CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.47256141
74NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.46538518
75* THAP11_20581084_ChIP-Seq_MESCs_Mouse1.45611599
76HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.45128499
77E2F1_21310950_ChIP-Seq_MCF-7_Human1.41515148
78TTF2_22483619_ChIP-Seq_HELA_Human1.38989029
79STAT3_1855785_ChIP-Seq_MESCs_Mouse1.38478333
80FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.36966048
81GATA4_21415370_ChIP-Seq_HL-1_Mouse1.36914781
82MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.32639592
83SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.32086821
84DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.30251286
85NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.29285086
86CTNNB1_20460455_ChIP-Seq_HCT116_Human1.28769007
87BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.28387472
88MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.28279961
89SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.27758860
90MTF2_20144788_ChIP-Seq_MESCs_Mouse1.27029742
91GATA1_19941827_ChIP-Seq_MEL_Mouse1.26595473
92NFIB_24661679_ChIP-Seq_LUNG_Mouse1.26022541
93MYC_22102868_ChIP-Seq_BL_Human1.26020020
94CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.25661889
95RUNX1_27514584_Chip-Seq_MCF-7_Human1.24983768
96* RACK7_27058665_Chip-Seq_MCF-7_Human1.23547124
97CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.23233573
98SOX2_27498859_Chip-Seq_STOMACH_Mouse1.22295809
99LXR_22158963_ChIP-Seq_LIVER_Mouse1.20948859
100PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.20655774
101SOX9_24532713_ChIP-Seq_HFSC_Mouse1.20197956
102ELK1_22589737_ChIP-Seq_MCF10A_Human1.19625490
103* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.18597639
104NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.18405031
105* KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.18364819
106STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.17660006
107NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.17414395
108AHR_22903824_ChIP-Seq_MCF-7_Human1.17260677
109CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.16385890
110* RXR_22158963_ChIP-Seq_LIVER_Mouse1.15592514
111SRF_21415370_ChIP-Seq_HL-1_Mouse1.14621466
112GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13923483
113ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.11673984
114NANOG_21062744_ChIP-ChIP_HESCs_Human1.11444648
115SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.11247409
116MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.11138655
117KAP1_22055183_ChIP-Seq_ESCs_Mouse1.10228818
118SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.07303847
119* PPAR_26484153_Chip-Seq_NCI-H1993_Human1.06432381
120CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.06296506
121GATA2_21666600_ChIP-Seq_HMVEC_Human1.06183298
122KDM2B_26808549_Chip-Seq_SUP-B15_Human1.05827756
123BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.05663164
124TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse1.05627917
125PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.05475320
126SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.05438701
127* PPARA_22158963_ChIP-Seq_LIVER_Mouse1.05400964
128NOTCH1_21737748_ChIP-Seq_TLL_Human1.04632408
129FOXA2_19822575_ChIP-Seq_HepG2_Human1.04605541
130* ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.04247473
131PADI4_21655091_ChIP-ChIP_MCF-7_Human1.03681300
132* ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.03648137
133EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.03030687
134WT1_25993318_ChIP-Seq_PODOCYTE_Human1.02445655
135SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.01918084
136AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.00854377
137EZH2_27294783_Chip-Seq_ESCs_Mouse1.00507120
138TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.00012190
139NR3C1_23031785_ChIP-Seq_PC12_Mouse0.99225026
140SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.98882019
141SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.97407258
142WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.96729337
143SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.96693733
144E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.96322305
145SALL1_21062744_ChIP-ChIP_HESCs_Human0.95894639
146TCF7_22412390_ChIP-Seq_EML_Mouse0.95587800
147LXR_22292898_ChIP-Seq_THP-1_Human0.95565737
148ARNT_22903824_ChIP-Seq_MCF-7_Human0.95538559
149TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.94980821
150SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.94493161
151EZH2_18974828_ChIP-Seq_MESCs_Mouse0.94259068
152RNF2_18974828_ChIP-Seq_MESCs_Mouse0.94259068
153SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.93871464
154YAP1_20516196_ChIP-Seq_MESCs_Mouse0.93256134
155ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.91650899
156GATA1_19941827_ChIP-Seq_MEL86_Mouse0.90983695
157KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.90097827
158* FOXM1_26456572_ChIP-Seq_MCF-7_Human0.89302286
159EGR1_19374776_ChIP-ChIP_THP-1_Human0.89093808
160CTCF_27219007_Chip-Seq_Bcells_Human0.88628044
161POU5F1_18692474_ChIP-Seq_MESCs_Mouse0.88375400
162KDM2B_26808549_Chip-Seq_K562_Human0.88042237
163EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.87475927
164NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.87220160
165CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.86457483
166SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.86314081
167KAP1_27257070_Chip-Seq_ESCs_Mouse0.86245669
168EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.85722670
169OCT4_18692474_ChIP-Seq_MEFs_Mouse0.85581055
170TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.85454296
171TCF4_18268006_ChIP-ChIP_LS174T_Human0.85110038
172NRF2_20460467_ChIP-Seq_MEFs_Mouse0.84196437
173NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.84196437
174* GATA3_24758297_ChIP-Seq_MCF-7_Human0.83827610
175FOXP1_21924763_ChIP-Seq_HESCs_Human0.83150652
176KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.81976765
177YY1_22570637_ChIP-Seq_MALME-3M_Human0.81843738
178RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.81721191
179HOXB4_20404135_ChIP-ChIP_EML_Mouse0.81700858
180NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.81694972
181KDM2B_26808549_Chip-Seq_DND41_Human0.81273236
182ATF3_27146783_Chip-Seq_COLON_Human0.80753116
183GATA2_19941826_ChIP-Seq_K562_Human0.80670805
184SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.80504607
185SMC4_20622854_ChIP-Seq_HELA_Human0.80422925
186DNAJC2_21179169_ChIP-ChIP_NT2_Human0.80148671
187CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.79848157
188ELK1_19687146_ChIP-ChIP_HELA_Human0.79603875
189EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.79359813
190JARID2_20075857_ChIP-Seq_MESCs_Mouse0.78942701
191TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.78886569
192CREB1_26743006_Chip-Seq_LNCaP_Human0.78646708
193FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.77608050
194PHF8_20622854_ChIP-Seq_HELA_Human0.77459500
195CHD1_26751641_Chip-Seq_LNCaP_Human0.76320977
196POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.75541922
197TP63_19390658_ChIP-ChIP_HaCaT_Human0.75111261
198TFEB_21752829_ChIP-Seq_HELA_Human0.74772259

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching6.55174957
2MP0000751_myopathy5.72603437
3MP0008260_abnormal_autophagy5.10154296
4MP0003111_abnormal_nucleus_morphology5.00434164
5MP0003718_maternal_effect4.51871322
6MP0004145_abnormal_muscle_electrophysio4.44705572
7MP0000749_muscle_degeneration4.39707063
8MP0009840_abnormal_foam_cell4.11838949
9MP0004957_abnormal_blastocyst_morpholog3.69084621
10MP0010094_abnormal_chromosome_stability3.31412146
11MP0002837_dystrophic_cardiac_calcinosis3.23329961
12MP0004087_abnormal_muscle_fiber3.22970577
13MP0003077_abnormal_cell_cycle3.18548635
14MP0004130_abnormal_muscle_cell3.14043794
15MP0002106_abnormal_muscle_physiology2.88502690
16MP0004484_altered_response_of2.80216788
17MP0005620_abnormal_muscle_contractility2.68876036
18MP0002972_abnormal_cardiac_muscle2.65083200
19MP0000759_abnormal_skeletal_muscle2.60745590
20MP0003786_premature_aging2.51866415
21MP0005451_abnormal_body_composition2.44053196
22MP0005369_muscle_phenotype2.43287915
23MP0004510_myositis2.42822738
24MP0001730_embryonic_growth_arrest2.36071673
25MP0002332_abnormal_exercise_endurance2.34693608
26MP0001661_extended_life_span2.34009921
27MP0003123_paternal_imprinting2.32263329
28MP0008057_abnormal_DNA_replication2.27864522
29MP0004233_abnormal_muscle_weight2.25792276
30MP0008058_abnormal_DNA_repair2.17032488
31MP0005377_hearing/vestibular/ear_phenot2.15674831
32MP0003878_abnormal_ear_physiology2.15674831
33MP0009780_abnormal_chondrocyte_physiolo2.10996665
34MP0010630_abnormal_cardiac_muscle2.07609257
35MP0005385_cardiovascular_system_phenoty2.00755294
36MP0001544_abnormal_cardiovascular_syste2.00755294
37MP0005670_abnormal_white_adipose1.95660322
38MP0003221_abnormal_cardiomyocyte_apopto1.85922466
39MP0008932_abnormal_embryonic_tissue1.80020896
40MP0005380_embryogenesis_phenotype1.75944558
41MP0001672_abnormal_embryogenesis/_devel1.75944558
42MP0008775_abnormal_heart_ventricle1.73350338
43MP0001542_abnormal_bone_strength1.72267230
44MP0003137_abnormal_impulse_conducting1.71778884
45MP0004270_analgesia1.68773057
46MP0000350_abnormal_cell_proliferation1.66933246
47MP0000013_abnormal_adipose_tissue1.65307870
48MP0003646_muscle_fatigue1.62976939
49MP0005395_other_phenotype1.62321236
50MP0005666_abnormal_adipose_tissue1.58679063
51MP0003329_amyloid_beta_deposits1.57220771
52MP0003984_embryonic_growth_retardation1.53933246
53MP0000733_abnormal_muscle_development1.50238487
54MP0002088_abnormal_embryonic_growth/wei1.49957966
55MP0002396_abnormal_hematopoietic_system1.49202923
56MP0002108_abnormal_muscle_morphology1.48772734
57MP0002080_prenatal_lethality1.48649995
58MP0000750_abnormal_muscle_regeneration1.48538906
59MP0000747_muscle_weakness1.48235928
60MP0004019_abnormal_vitamin_homeostasis1.44697901
61MP0003567_abnormal_fetal_cardiomyocyte1.44314499
62MP0010307_abnormal_tumor_latency1.42968948
63MP0005332_abnormal_amino_acid1.42929463
64MP0008877_abnormal_DNA_methylation1.39197276
65MP0004084_abnormal_cardiac_muscle1.38820568
66MP0009333_abnormal_splenocyte_physiolog1.38713553
67MP0003879_abnormal_hair_cell1.38207834
68MP0004085_abnormal_heartbeat1.37367196
69MP0008007_abnormal_cellular_replicative1.36853930
70MP0001697_abnormal_embryo_size1.34954254
71MP0002971_abnormal_brown_adipose1.34789623
72MP0005165_increased_susceptibility_to1.34398669
73MP0004185_abnormal_adipocyte_glucose1.31421326
74MP0003315_abnormal_perineum_morphology1.31345875
75MP0001756_abnormal_urination1.30982389
76MP0005375_adipose_tissue_phenotype1.29133418
77MP0005058_abnormal_lysosome_morphology1.28406695
78MP0009672_abnormal_birth_weight1.25419547
79MP0003828_pulmonary_edema1.24891027
80MP0003656_abnormal_erythrocyte_physiolo1.23981961
81MP0003938_abnormal_ear_development1.18690077
82MP0006035_abnormal_mitochondrial_morpho1.18185922
83MP0005397_hematopoietic_system_phenotyp1.11773258
84MP0001545_abnormal_hematopoietic_system1.11773258
85MP0002009_preneoplasia1.11575756
86MP0004885_abnormal_endolymph1.09781182
87MP0002269_muscular_atrophy1.09251112
88MP0000003_abnormal_adipose_tissue1.06872108
89MP0000358_abnormal_cell_content/1.05325159
90MP0002085_abnormal_embryonic_tissue0.97477001
91MP0002086_abnormal_extraembryonic_tissu0.96697201
92MP0005621_abnormal_cell_physiology0.96555537
93MP0005330_cardiomyopathy0.95906053
94MP0010234_abnormal_vibrissa_follicle0.95326996
95MP0002210_abnormal_sex_determination0.95241508
96MP0003045_fibrosis0.94543377
97MP0000313_abnormal_cell_death0.94034516
98MP0001145_abnormal_male_reproductive0.92569773
99MP0005365_abnormal_bile_salt0.92428787
100MP0001929_abnormal_gametogenesis0.91455635
101MP0005266_abnormal_metabolism0.90906667
102MP0004043_abnormal_pH_regulation0.89551787
103MP0003191_abnormal_cellular_cholesterol0.89000428
104MP0005384_cellular_phenotype0.88975026
105MP0001764_abnormal_homeostasis0.88880010
106MP0003699_abnormal_female_reproductive0.88405092
107MP0006036_abnormal_mitochondrial_physio0.87364932
108MP0010329_abnormal_lipoprotein_level0.85742356
109MP0004859_abnormal_synaptic_plasticity0.85706899
110MP0003950_abnormal_plasma_membrane0.84603860
111MP0000653_abnormal_sex_gland0.83989315
112MP0008569_lethality_at_weaning0.82089297
113MP0005319_abnormal_enzyme/_coenzyme0.81809982
114MP0005389_reproductive_system_phenotype0.80498491
115MP0002019_abnormal_tumor_incidence0.78080961
116MP0000609_abnormal_liver_physiology0.77746658
117MP0002160_abnormal_reproductive_system0.76831743
118MP0001440_abnormal_grooming_behavior0.76548070
119MP0000266_abnormal_heart_morphology0.76188707
120MP0001765_abnormal_ion_homeostasis0.74109186
121MP0002084_abnormal_developmental_patter0.73396374
122MP0000604_amyloidosis0.72488747
123MP0009703_decreased_birth_body0.72339061
124MP0005409_darkened_coat_color0.71855446
125MP0002132_abnormal_respiratory_system0.69904753
126MP0006138_congestive_heart_failure0.69116442
127MP0000627_abnormal_mammary_gland0.68151604
128MP0002161_abnormal_fertility/fecundity0.68125999
129MP0003705_abnormal_hypodermis_morpholog0.67238149
130MP0000465_gastrointestinal_hemorrhage0.67196135
131MP0004147_increased_porphyrin_level0.66867547
132MP0005423_abnormal_somatic_nervous0.66803521
133MP0002876_abnormal_thyroid_physiology0.64672965
134MP0005535_abnormal_body_temperature0.62686738
135MP0002822_catalepsy0.61294336
136MP0002127_abnormal_cardiovascular_syste0.60742804
137MP0004808_abnormal_hematopoietic_stem0.60497061
138MP0002078_abnormal_glucose_homeostasis0.59629117
139MP0005085_abnormal_gallbladder_physiolo0.59392121
140MP0005166_decreased_susceptibility_to0.55405118
141MP0000647_abnormal_sebaceous_gland0.54942392
142MP0004215_abnormal_myocardial_fiber0.54670273
143MP0005584_abnormal_enzyme/coenzyme_acti0.54183393
144MP0009115_abnormal_fat_cell0.53744036
145MP0002896_abnormal_bone_mineralization0.52914301
146MP0002722_abnormal_immune_system0.52893962
147MP0002128_abnormal_blood_circulation0.52863916
148MP0000230_abnormal_systemic_arterial0.52283066
149MP0002169_no_abnormal_phenotype0.51898838
150MP0008874_decreased_physiological_sensi0.51184940
151MP0002873_normal_phenotype0.51121618
152MP0004264_abnormal_extraembryonic_tissu0.50712255
153MP0002877_abnormal_melanocyte_morpholog0.50360069
154MP0001919_abnormal_reproductive_system0.50304742
155MP0005334_abnormal_fat_pad0.50191761
156MP0000689_abnormal_spleen_morphology0.49149812
157MP0000001_mammalian_phenotype0.48141375
158MP0004036_abnormal_muscle_relaxation0.48057331
159MP0000490_abnormal_crypts_of0.48005531
160MP0001664_abnormal_digestion0.47498361
161MP0001958_emphysema0.47419616
162MP0002734_abnormal_mechanical_nocicepti0.45952761
163MP0010368_abnormal_lymphatic_system0.44305369
164MP0002909_abnormal_adrenal_gland0.42260210
165MP0005167_abnormal_blood-brain_barrier0.41743496
166MP0002118_abnormal_lipid_homeostasis0.40589776
167MP0008004_abnormal_stomach_pH0.39848717
168MP0003566_abnormal_cell_adhesion0.36653336
169MP0005083_abnormal_biliary_tract0.36326545
170MP0000343_altered_response_to0.35784352
171MP0005386_behavior/neurological_phenoty0.35293814
172MP0004924_abnormal_behavior0.35293814
173MP0003690_abnormal_glial_cell0.34582927
174MP0004782_abnormal_surfactant_physiolog0.33854366
175MP0000249_abnormal_blood_vessel0.33466196
176MP0003948_abnormal_gas_homeostasis0.32712413
177MP0001727_abnormal_embryo_implantation0.32634262
178MP0005452_abnormal_adipose_tissue0.28213011
179MP0003183_abnormal_peptide_metabolism0.27488290

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber inclusion bodies (HP:0100299)8.35435540
2Nemaline bodies (HP:0003798)8.29323668
3Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)8.15399387
4Exercise-induced myalgia (HP:0003738)6.80816522
5Hyperglycinemia (HP:0002154)6.69778264
6Type 1 muscle fiber predominance (HP:0003803)6.69382828
7Sudden death (HP:0001699)5.90996949
8Hyporeflexia of lower limbs (HP:0002600)5.85350310
9Exercise-induced muscle cramps (HP:0003710)5.76681744
10Hyperglycinuria (HP:0003108)5.51872277
11Muscle hypertrophy of the lower extremities (HP:0008968)5.47612090
12EMG: myopathic abnormalities (HP:0003458)5.34679921
13Calf muscle hypertrophy (HP:0008981)5.22694045
14Birth length less than 3rd percentile (HP:0003561)5.18337655
15Breast hypoplasia (HP:0003187)5.05246977
16Cerebral hypomyelination (HP:0006808)5.04227463
17* Bundle branch block (HP:0011710)5.03833019
18Abnormality of the calf musculature (HP:0001430)4.96478209
19Impulsivity (HP:0100710)4.92088800
20Abnormality of serine family amino acid metabolism (HP:0010894)4.69380637
21Abnormality of glycine metabolism (HP:0010895)4.69380637
22Centrally nucleated skeletal muscle fibers (HP:0003687)4.67381967
23Asymmetric septal hypertrophy (HP:0001670)4.65599214
24Distal lower limb muscle weakness (HP:0009053)4.64622216
25Subaortic stenosis (HP:0001682)4.57551458
26Abnormality of the left ventricular outflow tract (HP:0011103)4.57551458
27Carpal bone hypoplasia (HP:0001498)4.54734886
28Gout (HP:0001997)4.51143396
29Myoglobinuria (HP:0002913)4.44437377
30Neck muscle weakness (HP:0000467)4.40123626
31Rhabdomyolysis (HP:0003201)4.39535036
32Entropion (HP:0000621)4.32646920
33Myopathic facies (HP:0002058)4.28751895
34Ventricular tachycardia (HP:0004756)4.26278783
35Abnormality of the umbilical cord (HP:0010881)4.06298398
36Rough bone trabeculation (HP:0100670)3.99536134
37Distal arthrogryposis (HP:0005684)3.98668548
38Ureteral duplication (HP:0000073)3.95453882
39Abnormality of skeletal muscle fiber size (HP:0012084)3.91663422
40Difficulty running (HP:0009046)3.80643249
41Abnormality of serum amino acid levels (HP:0003112)3.77575406
42Increased connective tissue (HP:0009025)3.77401410
43Rimmed vacuoles (HP:0003805)3.74541454
44Progressive muscle weakness (HP:0003323)3.63182546
45EMG: neuropathic changes (HP:0003445)3.58588365
46Lipoatrophy (HP:0100578)3.52959147
47Increased variability in muscle fiber diameter (HP:0003557)3.50767826
48Dilated cardiomyopathy (HP:0001644)3.49572644
49Pustule (HP:0200039)3.44940386
50Tetraplegia (HP:0002445)3.41249809
51Aplasia/Hypoplasia of the patella (HP:0006498)3.39158682
52CNS hypomyelination (HP:0003429)3.34142415
53Right ventricular cardiomyopathy (HP:0011663)3.33633663
54Round ear (HP:0100830)3.31902719
55Multiple enchondromatosis (HP:0005701)3.30586049
56Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.27072536
57Abnormality of alanine metabolism (HP:0010916)3.27072536
58Hyperalaninemia (HP:0003348)3.27072536
59Muscle fiber splitting (HP:0003555)3.26439940
60Aplasia/Hypoplasia involving the carpal bones (HP:0006502)3.26304837
61Patellar aplasia (HP:0006443)3.25663014
62Glucose intolerance (HP:0000833)3.20681558
63Atrial fibrillation (HP:0005110)3.19010477
64Frequent falls (HP:0002359)3.18116422
65Abnormality of the distal phalanges of the toes (HP:0010182)3.10946220
66Premature ovarian failure (HP:0008209)3.07440757
67Delusions (HP:0000746)3.05650265
68Death in infancy (HP:0001522)3.04677908
69* Heart block (HP:0012722)3.01051429
70Ulnar deviation of the wrist (HP:0003049)3.00266460
71* Ventricular arrhythmia (HP:0004308)2.99876965
72Megaloblastic anemia (HP:0001889)2.95195341
73Mildly elevated creatine phosphokinase (HP:0008180)2.93300461
74Ragged-red muscle fibers (HP:0003200)2.91670096
75* Syncope (HP:0001279)2.91251213
76Primary atrial arrhythmia (HP:0001692)2.90584390
77Secondary amenorrhea (HP:0000869)2.90442845
78* Abnormal atrioventricular conduction (HP:0005150)2.90405017
79Distal lower limb amyotrophy (HP:0008944)2.89345306
80Personality changes (HP:0000751)2.86407319
81Muscle stiffness (HP:0003552)2.84529516
82Abnormal trabecular bone morphology (HP:0100671)2.84443791
83Patent foramen ovale (HP:0001655)2.84315904
84Generalized muscle weakness (HP:0003324)2.80409843
85Supraventricular tachycardia (HP:0004755)2.79878267
86Abnormality of the foot musculature (HP:0001436)2.78479166
87Restlessness (HP:0000711)2.77476036
88Hypoplasia of the capital femoral epiphysis (HP:0003090)2.74693540
89Short nail (HP:0001799)2.74485896
90Supraventricular arrhythmia (HP:0005115)2.71591611
91Hyperkalemia (HP:0002153)2.71066661
92Areflexia of lower limbs (HP:0002522)2.69806146
93Hyperglycemia (HP:0003074)2.68955914
94Submucous cleft hard palate (HP:0000176)2.63995456
95Scapular winging (HP:0003691)2.61880079
96Foot dorsiflexor weakness (HP:0009027)2.61539443
97Reduced subcutaneous adipose tissue (HP:0003758)2.59707163
98Bulbar palsy (HP:0001283)2.58238462
99Abnormalities of placenta or umbilical cord (HP:0001194)2.57734717
100Myotonia (HP:0002486)2.55887865
101Dysautonomia (HP:0002459)2.54185932
102Pelvic girdle muscle weakness (HP:0003749)2.53500649
103Aplasia/Hypoplasia involving the musculature (HP:0001460)2.51248897
104Difficulty climbing stairs (HP:0003551)2.49631072
105Abnormality of the anterior horn cell (HP:0006802)2.49025924
106Degeneration of anterior horn cells (HP:0002398)2.49025924
107Global brain atrophy (HP:0002283)2.48968897
108Microretrognathia (HP:0000308)2.47871595
109Osteolytic defects of the phalanges of the hand (HP:0009771)2.42844203
110Osteolytic defects of the hand bones (HP:0009699)2.42844203
111Mutism (HP:0002300)2.42678144
112Shoulder girdle muscle weakness (HP:0003547)2.42144581
113Small epiphyses (HP:0010585)2.41611880
114Premature rupture of membranes (HP:0001788)2.41560661
115Brittle hair (HP:0002299)2.40525884
116Oligodactyly (hands) (HP:0001180)2.40077972
117Absent phalangeal crease (HP:0006109)2.36691560
118Sparse lateral eyebrow (HP:0005338)2.36108612
119Congenital, generalized hypertrichosis (HP:0004540)2.35182124
120Palpitations (HP:0001962)2.31398537
121Stillbirth (HP:0003826)2.30141125
122Abnormal spermatogenesis (HP:0008669)2.28125049
123Prolonged neonatal jaundice (HP:0006579)2.27606795
124Atrophy/Degeneration involving motor neurons (HP:0007373)2.27370433
125Calcaneovalgus deformity (HP:0001848)2.22270269
126Unsteady gait (HP:0002317)2.19999167
127Absent hand (HP:0004050)2.19325159
128Lower limb amyotrophy (HP:0007210)2.17447767
129Sparse eyelashes (HP:0000653)2.16886421
130Segmental peripheral demyelination/remyelination (HP:0003481)2.15298080
131Split foot (HP:0001839)2.15219093
132CNS demyelination (HP:0007305)2.14389548
133Abnormality of the musculature of the pelvis (HP:0001469)2.14220831
134Abnormality of the hip-girdle musculature (HP:0001445)2.14220831
135Gowers sign (HP:0003391)2.13865049
136Abnormality of the labia minora (HP:0012880)2.11930649
137Postnatal microcephaly (HP:0005484)2.08420824
138Malignant hyperthermia (HP:0002047)2.07245065
139Increased purine levels (HP:0004368)2.07070452
140Hyperuricemia (HP:0002149)2.07070452
141Short clavicles (HP:0000894)2.05997038
142Dysmetric saccades (HP:0000641)2.05986258
143Spinal rigidity (HP:0003306)2.02638805
144Insulin-resistant diabetes mellitus (HP:0000831)2.02406985
145Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.01756141
146Absent epiphyses (HP:0010577)2.01756141
147Absent radius (HP:0003974)2.01678017
148Limb-girdle muscle atrophy (HP:0003797)2.01599805
149Spinal muscular atrophy (HP:0007269)2.00499138
150Male infertility (HP:0003251)2.00255196
151Spastic paraparesis (HP:0002313)1.99488291
152Oligodactyly (HP:0012165)1.98541237
153Abnormality of the motor neurons (HP:0002450)1.97949221
154Abnormal neuron morphology (HP:0012757)1.97949221
155Muscular dystrophy (HP:0003560)1.97894351
156Abnormal glucose tolerance (HP:0001952)1.97143241
157* Ventricular fibrillation (HP:0001663)1.96222337
158Spastic tetraparesis (HP:0001285)1.94393413
159Prolonged QT interval (HP:0001657)1.93416638
160Abnormal finger flexion creases (HP:0006143)1.93255343
161Aplasia involving forearm bones (HP:0009822)1.92703565
162Absent forearm bone (HP:0003953)1.92703565
163Testicular atrophy (HP:0000029)1.92471122
164Steppage gait (HP:0003376)1.92366896
165Weak cry (HP:0001612)1.89629431
166Polycythemia (HP:0001901)1.88631276
167Deformed tarsal bones (HP:0008119)1.88559984
168Aplasia/Hypoplasia of the earlobes (HP:0009906)1.86094156
169Irregular epiphyses (HP:0010582)1.84913987
170Proximal amyotrophy (HP:0007126)1.84887981
171Neurodegeneration (HP:0002180)1.83708753
172Fetal akinesia sequence (HP:0001989)1.82119107
173Abnormality of the shoulder girdle musculature (HP:0001435)1.81168176
174External ophthalmoplegia (HP:0000544)1.79227442
175* Atrioventricular block (HP:0001678)1.77268438
176Hip contracture (HP:0003273)1.71439518
177* Sudden cardiac death (HP:0001645)1.70860463
178Left ventricular hypertrophy (HP:0001712)1.70618434
179Pheochromocytoma (HP:0002666)1.67890374
180* Abnormal EKG (HP:0003115)1.67605406
181Waddling gait (HP:0002515)1.62904870
182Abnormality of the neuromuscular junction (HP:0003398)1.62009568
183Fatigable weakness (HP:0003473)1.62009568
184Respiratory insufficiency due to muscle weakness (HP:0002747)1.60039629
185Oligomenorrhea (HP:0000876)1.58433963
186Toxemia of pregnancy (HP:0100603)1.55264613
187Hyperactive renin-angiotensin system (HP:0000841)1.53659192
188Palmoplantar keratoderma (HP:0000982)1.50703815
189Slender build (HP:0001533)1.44073929
190Abnormality of potassium homeostasis (HP:0011042)1.43978019
191Increased muscle lipid content (HP:0009058)1.42259184
192Diaphragmatic weakness (HP:0009113)1.40481358
193Facial diplegia (HP:0001349)1.38719443
194Decreased circulating renin level (HP:0003351)1.36536823
195Congestive heart failure (HP:0001635)1.36334650

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN8.52514434
2BUB16.81145050
3TTN6.01450085
4WEE14.62360958
5PHKG14.60821957
6PHKG24.60821957
7TSSK64.28364621
8AKT33.80918490
9PLK42.97326912
10NEK22.81783063
11EIF2AK12.54388220
12EPHA22.38932283
13STK162.30737645
14PNCK2.30066355
15MYLK2.25124605
16BRSK22.23133147
17DMPK2.19635363
18PDK32.13856623
19PDK42.13856623
20ZAK2.13741856
21MAPK122.08679509
22PLK32.07239142
23IRAK31.99512696
24BRSK11.98341667
25TTK1.95661329
26NEK11.94340252
27EEF2K1.90315212
28PIK3CG1.88585861
29MAPKAPK31.87149433
30CCNB11.82618898
31ARAF1.80017876
32SRPK11.72403704
33MAP3K91.72255254
34PLK11.70384472
35RIPK11.67298633
36PIK3CA1.63470698
37DYRK31.61126530
38TRPM71.58286946
39EIF2AK31.55379760
40MUSK1.52632611
41PDK21.47250959
42SCYL21.46303728
43MAP3K71.41431597
44NME21.40538989
45MKNK21.39764405
46ACVR1B1.36713514
47LATS21.30950612
48PINK11.30241390
49MARK11.30154038
50ALK1.28502877
51BRAF1.23334348
52CHEK21.16224586
53STK31.15079307
54CAMK2D1.14987422
55CAMK2G1.07922883
56MAP2K31.02683953
57PRKAA20.99112951
58CDK40.99073038
59AURKB0.94135257
60TESK20.90112309
61CAMK2B0.89597577
62STK38L0.89579712
63AURKA0.89504753
64STK240.88145647
65PRPF4B0.85598674
66EPHA30.85465075
67LIMK10.84270339
68MAP3K80.83946964
69PRKCI0.81960859
70ICK0.78760433
71STK380.77893661
72MKNK10.77769714
73MAP2K40.75472145
74MAP3K130.75438734
75CAMK40.75270301
76CAMK10.74959152
77PRKD10.73619031
78MAPK70.69065098
79RPS6KB20.68763867
80BCKDK0.68431514
81CAMKK20.67518855
82TAOK10.67370590
83CSNK1G30.67241808
84PKN20.67241343
85SGK30.66518468
86RAF10.66142431
87EPHB10.64597427
88NEK90.64481059
89PRKAA10.64325806
90CHEK10.64166662
91CSNK1G10.64098754
92NEK60.63470978
93SIK10.62458686
94ROCK10.59749291
95MAP2K60.59514600
96CAMK2A0.59227864
97TESK10.57639316
98PAK10.57488514
99PRKCG0.56564647
100CSNK1G20.56196166
101KSR20.54245573
102LMTK20.53816900
103CSNK1E0.53148089
104CDC70.53077782
105RET0.53072035
106MAP3K60.52935422
107DAPK20.51266776
108CDK20.51112012
109NME10.51093949
110MAPK110.50039244
111MAP3K10.48409335
112CSNK1A1L0.46557700
113SGK20.45948268
114ERBB30.45693581
115PAK30.45631170
116ZAP700.45524457
117MST1R0.44224278
118MAP2K20.43827123
119PAK60.43429798
120MELK0.41947124
121FGFR30.41809302
122RPS6KB10.41421540
123MAP3K30.40624657
124TBK10.39939235
125MARK20.39353438
126PRKG10.38734119
127RPS6KA40.38017639
128RPS6KL10.37833733
129RPS6KC10.37833733
130ROCK20.37767330
131JAK10.37300886
132PIM20.36874541
133MAP3K20.36700677
134RPS6KA30.36514185
135FGFR40.35911917
136ATR0.35716397
137RPS6KA20.35467333
138SGK10.34998371
139CSNK2A20.34523809
140CAMKK10.32888025
141FER0.32844064
142CDK70.32148370
143CDK10.31886240
144DYRK1B0.31785839
145RIPK40.31712089
146PRKACG0.31259575
147CSNK2A10.31117353
148PRKACA0.30927629
149EIF2AK20.30802350
150PDPK10.30087426
151PIM10.29242281
152SGK4940.28432769
153SGK2230.28432769
154CDC42BPA0.27465224
155PRKACB0.27070161
156MAPK40.26449093
157MOS0.26364175
158MAP3K120.26148632
159MAP3K50.25924320
160CSNK1A10.25062423
161STK110.25025854
162RPS6KA60.24731176
163VRK10.23518061
164PDK10.22259907
165MARK30.21332682
166MAP2K10.20131965
167DYRK20.17642539
168STK40.17616775
169MTOR0.17404480
170STK100.17374195
171ABL20.17236437
172NUAK10.16641749
173CDK30.16034802
174GRK50.15522864
175TRIB30.15155159
176AKT20.14497758
177GRK60.13877856
178MAPK100.13271714
179KSR10.11822252

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007508.46518595
2RNA polymerase_Homo sapiens_hsa030204.28605907
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030084.14160682
4Dilated cardiomyopathy_Homo sapiens_hsa054143.80727759
5Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.71436145
6Proteasome_Homo sapiens_hsa030503.41362497
7Regulation of autophagy_Homo sapiens_hsa041403.23057792
8RNA transport_Homo sapiens_hsa030133.11880356
9Cardiac muscle contraction_Homo sapiens_hsa042602.96485874
10Folate biosynthesis_Homo sapiens_hsa007902.68917407
11Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.64782827
12Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.47274326
13Pantothenate and CoA biosynthesis_Homo sapiens_hsa007702.39170313
14Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042612.38086554
15Pyrimidine metabolism_Homo sapiens_hsa002402.17081874
16Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.11788734
17Cell cycle_Homo sapiens_hsa041102.11370975
18DNA replication_Homo sapiens_hsa030301.89447419
19Spliceosome_Homo sapiens_hsa030401.87249419
20* Glycerophospholipid metabolism_Homo sapiens_hsa005641.85084769
21Pentose phosphate pathway_Homo sapiens_hsa000301.81252575
22Vitamin digestion and absorption_Homo sapiens_hsa049771.77807290
23Cysteine and methionine metabolism_Homo sapiens_hsa002701.67622355
24Oocyte meiosis_Homo sapiens_hsa041141.59071556
25Glucagon signaling pathway_Homo sapiens_hsa049221.58289858
26Purine metabolism_Homo sapiens_hsa002301.56212952
27Renin secretion_Homo sapiens_hsa049241.54272198
28Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.52960760
29Base excision repair_Homo sapiens_hsa034101.52843199
30Oxytocin signaling pathway_Homo sapiens_hsa049211.52133282
31cGMP-PKG signaling pathway_Homo sapiens_hsa040221.51125283
32Basal transcription factors_Homo sapiens_hsa030221.50635203
33Drug metabolism - other enzymes_Homo sapiens_hsa009831.49280879
34Insulin resistance_Homo sapiens_hsa049311.47595242
35Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.42809934
36Phenylalanine metabolism_Homo sapiens_hsa003601.41084573
37p53 signaling pathway_Homo sapiens_hsa041151.37778676
38Calcium signaling pathway_Homo sapiens_hsa040201.37693322
39Long-term potentiation_Homo sapiens_hsa047201.34520946
40Gastric acid secretion_Homo sapiens_hsa049711.33007597
41Mismatch repair_Homo sapiens_hsa034301.32162699
42Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.30371991
432-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.29773037
44Fatty acid degradation_Homo sapiens_hsa000711.27022503
45Nucleotide excision repair_Homo sapiens_hsa034201.26920723
46Vascular smooth muscle contraction_Homo sapiens_hsa042701.22079680
47Adipocytokine signaling pathway_Homo sapiens_hsa049201.21455971
48Biosynthesis of amino acids_Homo sapiens_hsa012301.21275353
49PPAR signaling pathway_Homo sapiens_hsa033201.16202846
50Fructose and mannose metabolism_Homo sapiens_hsa000511.16094990
51Epstein-Barr virus infection_Homo sapiens_hsa051691.14813267
52Pyruvate metabolism_Homo sapiens_hsa006201.13004424
53Aldosterone synthesis and secretion_Homo sapiens_hsa049251.11688586
54Circadian rhythm_Homo sapiens_hsa047101.07699197
55GnRH signaling pathway_Homo sapiens_hsa049121.07332291
56Pancreatic secretion_Homo sapiens_hsa049721.05668436
57Propanoate metabolism_Homo sapiens_hsa006401.04272517
58Homologous recombination_Homo sapiens_hsa034401.02702583
59Insulin secretion_Homo sapiens_hsa049111.00784653
60Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.97487731
61Sulfur relay system_Homo sapiens_hsa041220.96890995
62Histidine metabolism_Homo sapiens_hsa003400.92990262
63Circadian entrainment_Homo sapiens_hsa047130.92262053
64Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.91762619
65Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.91239844
66Salivary secretion_Homo sapiens_hsa049700.90551125
67Amphetamine addiction_Homo sapiens_hsa050310.89744418
68Bile secretion_Homo sapiens_hsa049760.88528501
69Carbon metabolism_Homo sapiens_hsa012000.87279722
70mTOR signaling pathway_Homo sapiens_hsa041500.86779932
71Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.82858556
72Glycerolipid metabolism_Homo sapiens_hsa005610.79011024
73Ovarian steroidogenesis_Homo sapiens_hsa049130.78154855
74cAMP signaling pathway_Homo sapiens_hsa040240.77833732
75mRNA surveillance pathway_Homo sapiens_hsa030150.76968516
76Starch and sucrose metabolism_Homo sapiens_hsa005000.76409539
77Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.73635094
78Focal adhesion_Homo sapiens_hsa045100.70272950
79Fanconi anemia pathway_Homo sapiens_hsa034600.69534587
80Endometrial cancer_Homo sapiens_hsa052130.68117005
81Cholinergic synapse_Homo sapiens_hsa047250.66726064
82Butanoate metabolism_Homo sapiens_hsa006500.66286445
83Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.65383424
84Carbohydrate digestion and absorption_Homo sapiens_hsa049730.64810942
85Gap junction_Homo sapiens_hsa045400.64681482
86Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.64101937
87Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.62689256
88Platelet activation_Homo sapiens_hsa046110.61759602
89Ribosome_Homo sapiens_hsa030100.60739749
90Inositol phosphate metabolism_Homo sapiens_hsa005620.58401863
91Glioma_Homo sapiens_hsa052140.58194448
92VEGF signaling pathway_Homo sapiens_hsa043700.57558925
93Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.56460227
94RNA degradation_Homo sapiens_hsa030180.55876411
95Fatty acid biosynthesis_Homo sapiens_hsa000610.55390069
96Longevity regulating pathway - mammal_Homo sapiens_hsa042110.54450302
97FoxO signaling pathway_Homo sapiens_hsa040680.52366570
98Thyroid hormone synthesis_Homo sapiens_hsa049180.50111149
99Leukocyte transendothelial migration_Homo sapiens_hsa046700.49653887
100Fatty acid elongation_Homo sapiens_hsa000620.48855555
101Dopaminergic synapse_Homo sapiens_hsa047280.47140371
102Selenocompound metabolism_Homo sapiens_hsa004500.45782391
103Antigen processing and presentation_Homo sapiens_hsa046120.45566626
104Long-term depression_Homo sapiens_hsa047300.45563422
105Tyrosine metabolism_Homo sapiens_hsa003500.45275759
106Lysosome_Homo sapiens_hsa041420.44291610
107Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.43863247
108Viral myocarditis_Homo sapiens_hsa054160.42919301
109ABC transporters_Homo sapiens_hsa020100.42717937
110Metabolic pathways_Homo sapiens_hsa011000.42707653
111Phospholipase D signaling pathway_Homo sapiens_hsa040720.42198869
112Alzheimers disease_Homo sapiens_hsa050100.40478882
113Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.38861621
114Renin-angiotensin system_Homo sapiens_hsa046140.38746901
115Adherens junction_Homo sapiens_hsa045200.38358674
116Neurotrophin signaling pathway_Homo sapiens_hsa047220.38200092
117Type II diabetes mellitus_Homo sapiens_hsa049300.37172039
118Acute myeloid leukemia_Homo sapiens_hsa052210.36568572
119ErbB signaling pathway_Homo sapiens_hsa040120.36559845
120beta-Alanine metabolism_Homo sapiens_hsa004100.36372118
121Central carbon metabolism in cancer_Homo sapiens_hsa052300.35563152
122GABAergic synapse_Homo sapiens_hsa047270.34686224
123Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.34403816
124Arginine and proline metabolism_Homo sapiens_hsa003300.33868943
125Glutathione metabolism_Homo sapiens_hsa004800.33786227
126Glutamatergic synapse_Homo sapiens_hsa047240.33191729
127Morphine addiction_Homo sapiens_hsa050320.32057508
128One carbon pool by folate_Homo sapiens_hsa006700.31388660
129Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.28687146
130Nitrogen metabolism_Homo sapiens_hsa009100.27963745
131AMPK signaling pathway_Homo sapiens_hsa041520.25472932
132Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.23999819
133Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.21416753
134Renal cell carcinoma_Homo sapiens_hsa052110.21311867
135Arginine biosynthesis_Homo sapiens_hsa002200.21178060
136Cyanoamino acid metabolism_Homo sapiens_hsa004600.20621056
137Mineral absorption_Homo sapiens_hsa049780.20565194
138Thyroid hormone signaling pathway_Homo sapiens_hsa049190.19853305
139Collecting duct acid secretion_Homo sapiens_hsa049660.19015035
140Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.19007242
141Prion diseases_Homo sapiens_hsa050200.17441206
142Insulin signaling pathway_Homo sapiens_hsa049100.17231853
143Viral carcinogenesis_Homo sapiens_hsa052030.16521698
144Galactose metabolism_Homo sapiens_hsa000520.15824081
145Synaptic vesicle cycle_Homo sapiens_hsa047210.14046122
146HIF-1 signaling pathway_Homo sapiens_hsa040660.12580948
147Endocytosis_Homo sapiens_hsa041440.12385829
148Phosphatidylinositol signaling system_Homo sapiens_hsa040700.11752278
149Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.10829175
150Pentose and glucuronate interconversions_Homo sapiens_hsa000400.08279702
151Sphingolipid metabolism_Homo sapiens_hsa006000.05772957
152Choline metabolism in cancer_Homo sapiens_hsa052310.03447780
153Non-homologous end-joining_Homo sapiens_hsa034500.02068467
154Fat digestion and absorption_Homo sapiens_hsa049750.00772810
155Estrogen signaling pathway_Homo sapiens_hsa049150.00217686
156Fatty acid metabolism_Homo sapiens_hsa012120.00212330
157Intestinal immune network for IgA production_Homo sapiens_hsa04672-0.0535029
158Hippo signaling pathway_Homo sapiens_hsa04390-0.0431353
159HTLV-I infection_Homo sapiens_hsa05166-0.0363577
160Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.0336884
161Tight junction_Homo sapiens_hsa04530-0.0277309
162Non-small cell lung cancer_Homo sapiens_hsa05223-0.0220872
163Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760-0.0209250
164Retinol metabolism_Homo sapiens_hsa00830-0.0180492
165Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964-0.0057771

Most similar genes based on co-expression Upload to Enrichr

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