SPG7

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 a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1piRNA metabolic process (GO:0034587)9.94632118
2positive regulation of male gonad development (GO:2000020)9.37023039
3synapsis (GO:0007129)8.47880084
4synaptonemal complex assembly (GO:0007130)7.84321546
5male meiosis I (GO:0007141)7.64690771
6chromosome organization involved in meiosis (GO:0070192)7.56475210
7DNA methylation involved in gamete generation (GO:0043046)7.46374128
8regulation of male gonad development (GO:2000018)7.45822102
9synaptonemal complex organization (GO:0070193)7.06385349
10negative regulation of metanephros development (GO:0072217)6.93993394
11regulation of meiosis I (GO:0060631)6.82414948
12regulation of female gonad development (GO:2000194)6.41041885
13male meiosis (GO:0007140)6.36339885
14diaphragm development (GO:0060539)6.06275244
15metanephric mesenchyme development (GO:0072075)6.01591425
16lysine metabolic process (GO:0006553)5.90424088
17lysine catabolic process (GO:0006554)5.90424088
18meiosis I (GO:0007127)5.84499341
19skeletal muscle organ development (GO:0060538)5.83753665
20parturition (GO:0007567)5.80644637
21cellular response to gonadotropin stimulus (GO:0071371)5.78885268
22endocardial cushion development (GO:0003197)5.46974491
23regulation of cell proliferation involved in kidney development (GO:1901722)5.28513104
242-oxoglutarate metabolic process (GO:0006103)5.21508915
25kidney mesenchyme development (GO:0072074)5.19019793
26carnitine shuttle (GO:0006853)5.17755537
27DNA synthesis involved in DNA repair (GO:0000731)5.17163406
28meiotic nuclear division (GO:0007126)5.12141547
29mesonephros development (GO:0001823)5.11894983
30positive regulation of meiosis (GO:0045836)5.10443134
31tricarboxylic acid cycle (GO:0006099)5.06682091
32regulation of glomerulus development (GO:0090192)4.99067788
33atrioventricular valve morphogenesis (GO:0003181)4.98959484
34sex differentiation (GO:0007548)4.94115904
35fatty acid transmembrane transport (GO:1902001)4.91813885
36embryonic foregut morphogenesis (GO:0048617)4.81685649
37muscle cell fate commitment (GO:0042693)4.79182984
38positive regulation of meiotic cell cycle (GO:0051446)4.76730872
39sex determination (GO:0007530)4.76231524
40seminiferous tubule development (GO:0072520)4.73748081
41tricarboxylic acid metabolic process (GO:0072350)4.73050675
42aspartate family amino acid catabolic process (GO:0009068)4.70604916
43fatty acid beta-oxidation (GO:0006635)4.66385469
44negative regulation of mesenchymal cell apoptotic process (GO:2001054)4.64640502
45epithelial cell fate commitment (GO:0072148)4.62743280
46regulation of DNA endoreduplication (GO:0032875)4.62481205
47valine metabolic process (GO:0006573)4.58759928
48carnitine transport (GO:0015879)4.57401981
49amino-acid betaine transport (GO:0015838)4.57401981
50glomerulus development (GO:0032835)4.54477498
51carnitine transmembrane transport (GO:1902603)4.50200816
52fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.48322898
53cellular response to follicle-stimulating hormone stimulus (GO:0071372)4.45875683
54sister chromatid cohesion (GO:0007062)4.29861330
55negative regulation of kidney development (GO:0090185)4.22523428
56meiotic cell cycle process (GO:1903046)4.21860225
57regulation of fatty acid oxidation (GO:0046320)4.20592435
58fatty acid oxidation (GO:0019395)4.17772764
59positive regulation of fatty acid beta-oxidation (GO:0032000)4.15201366
60oxaloacetate metabolic process (GO:0006107)4.14158370
61acetyl-CoA metabolic process (GO:0006084)4.09927674
62interkinetic nuclear migration (GO:0022027)4.09709180
63lipid oxidation (GO:0034440)4.08907155
64response to gonadotropin (GO:0034698)4.07213764
65reproductive system development (GO:0061458)4.06968289
66alpha-linolenic acid metabolic process (GO:0036109)4.06730537
67regulation of fatty acid beta-oxidation (GO:0031998)4.04499869
68carnitine metabolic process (GO:0009437)4.04415549
69NADH metabolic process (GO:0006734)4.02187617
70sarcomere organization (GO:0045214)3.98604074
71mesenchymal to epithelial transition (GO:0060231)3.98156441
72amino-acid betaine metabolic process (GO:0006577)3.97744797
73fatty acid catabolic process (GO:0009062)3.95214786
74fusion of sperm to egg plasma membrane (GO:0007342)3.94239368
75glomerular basement membrane development (GO:0032836)3.92907090
76regulation of cardioblast differentiation (GO:0051890)3.91945547
77labyrinthine layer development (GO:0060711)3.91895627
78short-chain fatty acid metabolic process (GO:0046459)3.91402894
79quaternary ammonium group transport (GO:0015697)3.85349166
80SMAD protein signal transduction (GO:0060395)3.84809649
81cardiac muscle adaptation (GO:0014887)3.84763104
82cardiac muscle hypertrophy in response to stress (GO:0014898)3.84763104
83muscle hypertrophy in response to stress (GO:0003299)3.84763104
84gonadal mesoderm development (GO:0007506)3.83131366
85L-phenylalanine metabolic process (GO:0006558)3.82661638
86erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.82661638
87positive regulation of fatty acid oxidation (GO:0046321)3.81331347
88plasma membrane repair (GO:0001778)3.80005691
89glyoxylate metabolic process (GO:0046487)3.79018331
90epithelial cell differentiation involved in kidney development (GO:0035850)3.76169270
91regulation of sequestering of triglyceride (GO:0010889)3.73938702
92histone H3-K9 demethylation (GO:0033169)3.73051460
93ethanol oxidation (GO:0006069)3.70068747
94cardiac right ventricle morphogenesis (GO:0003215)3.68141483
95gene silencing by RNA (GO:0031047)3.66999025
96endoderm formation (GO:0001706)3.66527686
97regulation of mesenchymal cell apoptotic process (GO:2001053)3.65686586
98male sex determination (GO:0030238)3.63045568
99positive regulation of heart growth (GO:0060421)3.62807044
100negative regulation of macrophage differentiation (GO:0045650)3.61160907
101female gamete generation (GO:0007292)3.60859457
102L-phenylalanine catabolic process (GO:0006559)3.60711547
103erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.60711547
104homocysteine metabolic process (GO:0050667)3.57580946
105reciprocal DNA recombination (GO:0035825)3.56275337
106reciprocal meiotic recombination (GO:0007131)3.56275337
107monocarboxylic acid catabolic process (GO:0072329)3.55278959
108regulation of cholesterol homeostasis (GO:2000188)3.54541164
109kynurenine metabolic process (GO:0070189)3.54082694
1104-hydroxyproline metabolic process (GO:0019471)3.52924231
111positive regulation of metanephros development (GO:0072216)3.50206379
112sulfur amino acid catabolic process (GO:0000098)3.50122902
113metanephric epithelium development (GO:0072207)3.49691512
114biotin metabolic process (GO:0006768)3.49214783
115regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.48739416
116regulation of gonadotropin secretion (GO:0032276)3.47627774
117male genitalia development (GO:0030539)3.46523800
118negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.44263701
119dicarboxylic acid biosynthetic process (GO:0043650)3.42984500
120branched-chain amino acid metabolic process (GO:0009081)3.42704167
121positive regulation of mesonephros development (GO:0061213)3.38953267
122muscle filament sliding (GO:0030049)3.36594344
123actin-myosin filament sliding (GO:0033275)3.36594344
124cardiac myofibril assembly (GO:0055003)3.36382535
125oxidative demethylation (GO:0070989)3.33523146
126negative regulation of fatty acid biosynthetic process (GO:0045717)3.33514979
127DNA alkylation (GO:0006305)3.31917698
128DNA methylation (GO:0006306)3.31917698
129drug transmembrane transport (GO:0006855)3.31422737
130cysteine metabolic process (GO:0006534)3.30615682
131atrial septum morphogenesis (GO:0060413)3.30107145
132branched-chain amino acid catabolic process (GO:0009083)3.27004284
133succinate metabolic process (GO:0006105)3.24910591
134response to mercury ion (GO:0046689)3.22439895
135negative regulation of retinoic acid receptor signaling pathway (GO:0048387)3.20330029
136oogenesis (GO:0048477)3.19720541
137regulation of triglyceride catabolic process (GO:0010896)3.19574767
138positive regulation of synapse maturation (GO:0090129)3.19456075
139resolution of meiotic recombination intermediates (GO:0000712)3.17261627
140cellular ketone body metabolic process (GO:0046950)3.16126476
141regulation of chromatin binding (GO:0035561)3.13243264
142cellular modified amino acid catabolic process (GO:0042219)3.12541001
143negative regulation of cell size (GO:0045792)3.11963838
144low-density lipoprotein particle clearance (GO:0034383)3.11006436
145negative regulation of potassium ion transmembrane transport (GO:1901380)3.10602683
146aromatic amino acid family catabolic process (GO:0009074)3.09864947
147negative regulation of fatty acid metabolic process (GO:0045922)3.07512951
148cellular response to electrical stimulus (GO:0071257)3.03886197
149triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.03855193
150serine family amino acid catabolic process (GO:0009071)3.03767561
151fatty acid homeostasis (GO:0055089)3.03497818
152meiotic chromosome segregation (GO:0045132)3.02963579
153histone H4-K12 acetylation (GO:0043983)3.02168008
154behavioral response to nicotine (GO:0035095)3.02039607
155response to follicle-stimulating hormone (GO:0032354)2.98044622
156fat-soluble vitamin catabolic process (GO:0042363)2.96457595
157vitamin catabolic process (GO:0009111)2.96457595
158positive regulation of histone deacetylation (GO:0031065)2.94686545
159cardiac muscle hypertrophy (GO:0003300)2.94517925
160regulation of acyl-CoA biosynthetic process (GO:0050812)2.93226926
161myofibril assembly (GO:0030239)2.92452789
162regulation of skeletal muscle contraction (GO:0014819)2.91685442
163alpha-amino acid catabolic process (GO:1901606)2.91236950
164carboxylic acid catabolic process (GO:0046395)2.90640625
165organic acid catabolic process (GO:0016054)2.90640625
166metanephros development (GO:0001656)2.90451247
167regulation of meiotic cell cycle (GO:0051445)2.87870134
168plasma membrane fusion (GO:0045026)2.87678425
169positive regulation of lipid catabolic process (GO:0050996)2.86747587
170phospholipid homeostasis (GO:0055091)2.86397058
171cellular amino acid catabolic process (GO:0009063)2.85422169
172negative regulation of fibrinolysis (GO:0051918)2.83465695
173negative regulation of meiosis (GO:0045835)2.82522642
174positive regulation of triglyceride metabolic process (GO:0090208)2.80649172
175complement activation, alternative pathway (GO:0006957)2.80631960
176germ cell development (GO:0007281)2.79609238
177regulation of mesonephros development (GO:0061217)2.78755507
178signal transduction involved in regulation of gene expression (GO:0023019)2.77694974
179bundle of His cell to Purkinje myocyte communication (GO:0086069)2.77499770
180intracellular lipid transport (GO:0032365)2.77443094
181positive regulation of triglyceride biosynthetic process (GO:0010867)2.77422514
182regulation of fatty acid metabolic process (GO:0019217)2.77338520
183regulation of cofactor metabolic process (GO:0051193)2.77160127
184regulation of coenzyme metabolic process (GO:0051196)2.77160127
185ethanol metabolic process (GO:0006067)2.76430409
186cardiac muscle contraction (GO:0060048)2.75898118
187regulation of fatty acid biosynthetic process (GO:0042304)2.74909278
188striated muscle hypertrophy (GO:0014897)2.74817250
189positive regulation of organ growth (GO:0046622)2.74452153
190tryptophan catabolic process (GO:0006569)2.72642945
191indole-containing compound catabolic process (GO:0042436)2.72642945
192indolalkylamine catabolic process (GO:0046218)2.72642945
193ketone body metabolic process (GO:1902224)2.72365312
194urea metabolic process (GO:0019627)2.72069634
195urea cycle (GO:0000050)2.72069634
196pentose-phosphate shunt (GO:0006098)2.71996338
197creatine metabolic process (GO:0006600)2.70031623
198bile acid biosynthetic process (GO:0006699)2.69329385

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.49881903
2ESR1_17901129_ChIP-ChIP_LIVER_Mouse6.31101742
3EZH2_22144423_ChIP-Seq_EOC_Human5.10832880
4TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat4.75161561
5RXR_22158963_ChIP-Seq_LIVER_Mouse4.32800187
6PPARA_22158963_ChIP-Seq_LIVER_Mouse4.24268714
7TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.65768458
8LXR_22158963_ChIP-Seq_LIVER_Mouse3.53467346
9IGF1R_20145208_ChIP-Seq_DFB_Human3.18828908
10RNF2_27304074_Chip-Seq_NSC_Mouse2.91673612
11MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.85995004
12CLOCK_20551151_ChIP-Seq_293T_Human2.76617491
13RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.75527646
14GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.68440150
15RARG_19884340_ChIP-ChIP_MEFs_Mouse2.66132844
16ZNF263_19887448_ChIP-Seq_K562_Human2.64670155
17RNF2_16625203_ChIP-ChIP_MESCs_Mouse2.61301830
18NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.61062710
19FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.54762556
20CBX2_27304074_Chip-Seq_ESCs_Mouse2.52536734
21BMI1_23680149_ChIP-Seq_NPCS_Mouse2.50729051
22EED_16625203_ChIP-ChIP_MESCs_Mouse2.45127388
23EZH2_27304074_Chip-Seq_ESCs_Mouse2.37947077
24NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.25595286
25ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.18908194
26JARID2_20064375_ChIP-Seq_MESCs_Mouse2.16193905
27JARID2_20075857_ChIP-Seq_MESCs_Mouse2.12017521
28KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.09985650
29KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.09985650
30KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.09985650
31CHD7_19251738_ChIP-ChIP_MESCs_Mouse2.01633001
32MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.01348363
33* ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.96752956
34* TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.96601802
35RNF2_18974828_ChIP-Seq_MESCs_Mouse1.95016729
36EZH2_18974828_ChIP-Seq_MESCs_Mouse1.95016729
37TBX20_22080862_ChIP-Seq_HEART_Mouse1.92977274
38TBX20_22328084_ChIP-Seq_HEART_Mouse1.92977274
39LXR_22292898_ChIP-Seq_THP-1_Human1.87239473
40RNF2_27304074_Chip-Seq_ESCs_Mouse1.78494031
41MYC_22102868_ChIP-Seq_BL_Human1.77965844
42ZNF274_21170338_ChIP-Seq_K562_Hela1.76587109
43PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.73248979
44VDR_22108803_ChIP-Seq_LS180_Human1.69353185
45TP63_17297297_ChIP-ChIP_HaCaT_Human1.69027823
46CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.68027700
47NOTCH1_21737748_ChIP-Seq_TLL_Human1.67742041
48YY1_22570637_ChIP-Seq_MALME-3M_Human1.67350089
49ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.66418544
50EZH2_27294783_Chip-Seq_ESCs_Mouse1.66226196
51RACK7_27058665_Chip-Seq_MCF-7_Human1.65869331
52PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.65234331
53KDM2B_26808549_Chip-Seq_DND41_Human1.63802476
54KDM2B_26808549_Chip-Seq_SUP-B15_Human1.60848492
55CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.60458581
56EGR1_23403033_ChIP-Seq_LIVER_Mouse1.60190098
57* ELK3_25401928_ChIP-Seq_HUVEC_Human1.60082798
58* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.58247350
59TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.57341338
60SUZ12_27294783_Chip-Seq_ESCs_Mouse1.55822015
61TCF7_22412390_ChIP-Seq_EML_Mouse1.55071032
62EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.54282339
63KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.52579866
64CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.52480499
65TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.47449393
66ESR2_21235772_ChIP-Seq_MCF-7_Human1.47097146
67RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.46601198
68STAT3_1855785_ChIP-Seq_MESCs_Mouse1.45125236
69* ATF3_27146783_Chip-Seq_COLON_Human1.43437397
70GATA1_26923725_Chip-Seq_HPCs_Mouse1.42345966
71NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.40812814
72ERA_21632823_ChIP-Seq_H3396_Human1.39139537
73KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.38897789
74EP300_21415370_ChIP-Seq_HL-1_Mouse1.38757660
75THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.38315800
76SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.38081157
77TP53_20018659_ChIP-ChIP_R1E_Mouse1.37513857
78CTCF_27219007_Chip-Seq_Bcells_Human1.35766199
79MTF2_20144788_ChIP-Seq_MESCs_Mouse1.34004005
80SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.32556311
81VDR_21846776_ChIP-Seq_THP-1_Human1.32154922
82P68_20966046_ChIP-Seq_HELA_Human1.32087339
83IRF1_19129219_ChIP-ChIP_H3396_Human1.32077215
84SOX2_27498859_Chip-Seq_STOMACH_Mouse1.31988643
85OCT4_19829295_ChIP-Seq_ESCs_Human1.31230396
86STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.31051241
87FOXA2_19822575_ChIP-Seq_HepG2_Human1.30634799
88SETDB1_19884257_ChIP-Seq_MESCs_Mouse1.30239033
89GATA1_22025678_ChIP-Seq_K562_Human1.29356159
90P300_27058665_Chip-Seq_ZR-75-30cells_Human1.28122774
91SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.27761552
92PHF8_20622854_ChIP-Seq_HELA_Human1.21650434
93* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.20992620
94SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.20404895
95TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.19695222
96FOXO3_23340844_ChIP-Seq_DLD1_Human1.19474784
97SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.17820267
98* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.17721482
99DROSHA_22980978_ChIP-Seq_HELA_Human1.17174635
100TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.16395423
101BCAT_22108803_ChIP-Seq_LS180_Human1.16367106
102GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.16046001
103HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.14454258
104FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.13797294
105RING1B_27294783_Chip-Seq_NPCs_Mouse1.12923405
106* CREB1_26743006_Chip-Seq_LNCaP_Human1.12892928
107REST_21632747_ChIP-Seq_MESCs_Mouse1.11371050
108SMAD4_21741376_ChIP-Seq_EPCs_Human1.11263190
109RUNX1_27514584_Chip-Seq_MCF-7_Human1.11189129
110GATA1_19941826_ChIP-Seq_K562_Human1.10694046
111HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.10480829
112TDRD3_21172665_ChIP-Seq_MCF-7_Human1.10465640
113PPAR_26484153_Chip-Seq_NCI-H1993_Human1.09702287
114PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.09621562
115* ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.09418421
116CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.09395222
117UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.08976590
118FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.08658003
119ZFP281_18757296_ChIP-ChIP_E14_Mouse1.07701577
120NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.07540377
121HIF1A_21447827_ChIP-Seq_MCF-7_Human1.07173066
122NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.06820278
123SOX2_21211035_ChIP-Seq_LN229_Human1.06763530
124GATA6_25053715_ChIP-Seq_YYC3_Human1.05488799
125GBX2_23144817_ChIP-Seq_PC3_Human1.05411254
126ESR1_21235772_ChIP-Seq_MCF-7_Human1.05145118
127* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.04577135
128SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.04420915
129OCT4_20526341_ChIP-Seq_ESCs_Human1.04160944
130HOXB7_26014856_ChIP-Seq_BT474_Human1.03566424
131TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.03187188
132EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.02943572
133* UTX_26944678_Chip-Seq_JUKART_Human1.02611067
134* TP63_22573176_ChIP-Seq_HFKS_Human1.02500168
135BRD4_27068464_Chip-Seq_AML-cells_Mouse1.01245920
136STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.00996756
137EGR1_19374776_ChIP-ChIP_THP-1_Human0.99973794
138* MAF_26560356_Chip-Seq_TH1_Human0.99603866
139TP63_19390658_ChIP-ChIP_HaCaT_Human0.99544450
140E2F1_20622854_ChIP-Seq_HELA_Human0.99171834
141ELF1_20517297_ChIP-Seq_JURKAT_Human0.99138188
142BCOR_27268052_Chip-Seq_Bcells_Human0.98622762
143CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.98460637
144E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.97995042
145* E2F1_17053090_ChIP-ChIP_MCF-7_Human0.97354745
146* HNF4A_19822575_ChIP-Seq_HepG2_Human0.96230979
147PRDM14_20953172_ChIP-Seq_ESCs_Human0.96158656
148SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.95585052
149TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.95351252
150KLF4_19829295_ChIP-Seq_ESCs_Human0.95053880
151CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.95017705
152MYC_18940864_ChIP-ChIP_HL60_Human0.94947512
153NCOR1_26117541_ChIP-Seq_K562_Human0.94800986
154RING1B_27294783_Chip-Seq_ESCs_Mouse0.93384676
155SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.93310431
156KDM2B_26808549_Chip-Seq_JURKAT_Human0.93298842
157CTBP1_25329375_ChIP-Seq_LNCAP_Human0.93122930
158* TCF4_23295773_ChIP-Seq_U87_Human0.93104252
159TP53_22127205_ChIP-Seq_IMR90_Human0.92916385
160RXR_22108803_ChIP-Seq_LS180_Human0.92870387
161P53_22127205_ChIP-Seq_FIBROBLAST_Human0.92178438
162ESR1_15608294_ChIP-ChIP_MCF-7_Human0.92146082
163GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.92028237
164KDM2B_26808549_Chip-Seq_K562_Human0.91940575
165* CTCF_21964334_ChIP-Seq_BJAB-B_Human0.91919865
166KAP1_22055183_ChIP-Seq_ESCs_Mouse0.91806481
167WDR5_24793694_ChIP-Seq_LNCAP_Human0.91703300
168STAT3_23295773_ChIP-Seq_U87_Human0.91428948
169BCL6_27268052_Chip-Seq_Bcells_Human0.91296608
170SMAD3_21741376_ChIP-Seq_ESCs_Human0.90728763
171ESR1_20079471_ChIP-ChIP_T-47D_Human0.90551599
172MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.90326987
173RUNX2_22187159_ChIP-Seq_PCA_Human0.89704219
174TRIM28_21343339_ChIP-Seq_HEK293_Human0.89211063
175TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.88967079
176UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.88893364
177GATA3_21867929_ChIP-Seq_TH1_Mouse0.88754380
178TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human0.88516693
179SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.87782514
180CTCF_21964334_Chip-Seq_Bcells_Human0.87653656
181NCOR_22424771_ChIP-Seq_293T_Human0.87349092
182GATA1_19941827_ChIP-Seq_MEL_Mouse0.87285877
183SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.86910856
184MYC_27129775_Chip-Seq_CORNEA_Mouse0.86384935
185SMC4_20622854_ChIP-Seq_HELA_Human0.86240924
186TET1_21451524_ChIP-Seq_MESCs_Mouse0.86233499
187NFIB_24661679_ChIP-Seq_LUNG_Mouse0.85803883
188STAT6_21828071_ChIP-Seq_BEAS2B_Human0.85780204
189HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.85568561
190ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.83617080
191CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.83453076
192TP53_22573176_ChIP-Seq_HFKS_Human0.82270685

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008877_abnormal_DNA_methylation7.27109331
2MP0008995_early_reproductive_senescence4.45130761
3MP0002139_abnormal_hepatobiliary_system4.14764541
4MP0005360_urolithiasis3.92775742
5MP0002837_dystrophic_cardiac_calcinosis3.88537697
6MP0002160_abnormal_reproductive_system3.26645302
7MP0003705_abnormal_hypodermis_morpholog3.12630587
8MP0001661_extended_life_span3.08200773
9MP0002210_abnormal_sex_determination3.07120141
10MP0003646_muscle_fatigue3.04360145
11MP0000751_myopathy3.03870610
12MP0003828_pulmonary_edema3.00562192
13MP0005389_reproductive_system_phenotype2.98085458
14MP0004130_abnormal_muscle_cell2.94495816
15MP0004084_abnormal_cardiac_muscle2.77290380
16MP0005085_abnormal_gallbladder_physiolo2.71150211
17MP0005365_abnormal_bile_salt2.66196402
18MP0001145_abnormal_male_reproductive2.57494521
19MP0003123_paternal_imprinting2.56424997
20MP0005670_abnormal_white_adipose2.45429746
21MP0006292_abnormal_olfactory_placode2.44082722
22MP0000678_abnormal_parathyroid_gland2.43573857
23MP0003252_abnormal_bile_duct2.43171355
24MP0001929_abnormal_gametogenesis2.41791683
25MP0005666_abnormal_adipose_tissue2.37057893
26MP0000749_muscle_degeneration2.35662293
27MP0000653_abnormal_sex_gland2.31924845
28MP0004036_abnormal_muscle_relaxation2.24122359
29MP0005330_cardiomyopathy2.17131666
30MP0003806_abnormal_nucleotide_metabolis2.13202141
31MP0003698_abnormal_male_reproductive2.10105618
32MP0004087_abnormal_muscle_fiber2.09765644
33MP0010329_abnormal_lipoprotein_level2.07528984
34MP0009840_abnormal_foam_cell1.99430661
35MP0005332_abnormal_amino_acid1.97017148
36MP0004185_abnormal_adipocyte_glucose1.93926707
37MP0008438_abnormal_cutaneous_collagen1.93852079
38MP0004215_abnormal_myocardial_fiber1.91957077
39MP0002269_muscular_atrophy1.90682270
40MP0000747_muscle_weakness1.88833479
41MP0003119_abnormal_digestive_system1.84990728
42MP0001919_abnormal_reproductive_system1.84856094
43MP0008875_abnormal_xenobiotic_pharmacok1.83901697
44MP0000383_abnormal_hair_follicle1.80716745
45MP0003315_abnormal_perineum_morphology1.75150720
46MP0005646_abnormal_pituitary_gland1.72985433
47MP0003300_gastrointestinal_ulcer1.71916098
48MP0003942_abnormal_urinary_system1.71218353
49MP0005410_abnormal_fertilization1.70378987
50MP0005375_adipose_tissue_phenotype1.69574445
51MP0000750_abnormal_muscle_regeneration1.69514472
52MP0003936_abnormal_reproductive_system1.64128756
53MP0010630_abnormal_cardiac_muscle1.63840874
54MP0010386_abnormal_urinary_bladder1.61826427
55MP0001119_abnormal_female_reproductive1.60594182
56MP0006036_abnormal_mitochondrial_physio1.55579378
57MP0005083_abnormal_biliary_tract1.55469955
58MP0000639_abnormal_adrenal_gland1.55092325
59MP0003195_calcinosis1.54211678
60MP0003191_abnormal_cellular_cholesterol1.53706626
61MP0008961_abnormal_basal_metabolism1.53639937
62MP0004885_abnormal_endolymph1.52958757
63MP0004043_abnormal_pH_regulation1.52089931
64MP0008775_abnormal_heart_ventricle1.50841730
65MP0004233_abnormal_muscle_weight1.48476616
66MP0003115_abnormal_respiratory_system1.47301533
67MP0003890_abnormal_embryonic-extraembry1.45629433
68MP0009643_abnormal_urine_homeostasis1.45056765
69MP0002106_abnormal_muscle_physiology1.44845713
70MP0005385_cardiovascular_system_phenoty1.43383259
71MP0001544_abnormal_cardiovascular_syste1.43383259
72MP0002118_abnormal_lipid_homeostasis1.42891896
73MP0002249_abnormal_larynx_morphology1.40427022
74MP0005620_abnormal_muscle_contractility1.40172945
75MP0000609_abnormal_liver_physiology1.39606863
76MP0003566_abnormal_cell_adhesion1.39489494
77MP0005319_abnormal_enzyme/_coenzyme1.39241405
78MP0000759_abnormal_skeletal_muscle1.38682402
79MP0002971_abnormal_brown_adipose1.37846099
80MP0002972_abnormal_cardiac_muscle1.37132685
81MP0000049_abnormal_middle_ear1.33330451
82MP0006138_congestive_heart_failure1.32277763
83MP0010234_abnormal_vibrissa_follicle1.29954921
84MP0001666_abnormal_nutrient_absorption1.27912491
85MP0005310_abnormal_salivary_gland1.26825237
86MP0002089_abnormal_postnatal_growth/wei1.26615989
87MP0005423_abnormal_somatic_nervous1.22730311
88MP0003221_abnormal_cardiomyocyte_apopto1.19304648
89MP0005584_abnormal_enzyme/coenzyme_acti1.18945846
90MP0000003_abnormal_adipose_tissue1.18017633
91MP0002161_abnormal_fertility/fecundity1.17068047
92MP0004145_abnormal_muscle_electrophysio1.16692940
93MP0005369_muscle_phenotype1.11451555
94MP0003943_abnormal_hepatobiliary_system1.11230385
95MP0010352_gastrointestinal_tract_polyps1.09625206
96MP0003786_premature_aging1.09366414
97MP0000013_abnormal_adipose_tissue1.07863435
98MP0001485_abnormal_pinna_reflex1.07797311
99MP0003283_abnormal_digestive_organ1.07174796
100MP0008058_abnormal_DNA_repair1.07168418
101MP0005275_abnormal_skin_tensile1.06563413
102MP0002127_abnormal_cardiovascular_syste1.05050816
103MP0000631_abnormal_neuroendocrine_gland1.05043172
104MP0004019_abnormal_vitamin_homeostasis1.02163528
105MP0000569_abnormal_digit_pigmentation1.00913200
106MP0001440_abnormal_grooming_behavior1.00735911
107MP0002877_abnormal_melanocyte_morpholog1.00317006
108MP0003699_abnormal_female_reproductive0.99297072
109MP0005174_abnormal_tail_pigmentation0.98537799
110MP0001756_abnormal_urination0.96752273
111MP0000733_abnormal_muscle_development0.95852148
112MP0002078_abnormal_glucose_homeostasis0.94801730
113MP0004133_heterotaxia0.94594641
114MP0002272_abnormal_nervous_system0.89520612
115MP0006054_spinal_hemorrhage0.89285229
116MP0003279_aneurysm0.88553863
117MP0001502_abnormal_circadian_rhythm0.88173070
118MP0001765_abnormal_ion_homeostasis0.87416916
119MP0002638_abnormal_pupillary_reflex0.86972408
120MP0009780_abnormal_chondrocyte_physiolo0.86754014
121MP0003137_abnormal_impulse_conducting0.85638711
122MP0003879_abnormal_hair_cell0.84203326
123MP0001986_abnormal_taste_sensitivity0.82959191
124MP0005334_abnormal_fat_pad0.82315761
125MP0000778_abnormal_nervous_system0.81897355
126MP0005220_abnormal_exocrine_pancreas0.81580517
127MP0004484_altered_response_of0.81431609
128MP0000598_abnormal_liver_morphology0.81029864
129MP0003937_abnormal_limbs/digits/tail_de0.80693086
130MP0009333_abnormal_splenocyte_physiolog0.80335034
131MP0000266_abnormal_heart_morphology0.79222879
132MP0004142_abnormal_muscle_tone0.79056188
133MP0000538_abnormal_urinary_bladder0.79039109
134MP0003045_fibrosis0.78401974
135MP0005551_abnormal_eye_electrophysiolog0.78163400
136MP0005076_abnormal_cell_differentiation0.77296802
137MP0004272_abnormal_basement_membrane0.77157926
138MP0010368_abnormal_lymphatic_system0.75494213
139MP0006035_abnormal_mitochondrial_morpho0.75088710
140MP0002735_abnormal_chemical_nociception0.74854056
141MP0010030_abnormal_orbit_morphology0.74822154
142MP0005058_abnormal_lysosome_morphology0.74536277
143MP0002970_abnormal_white_adipose0.74280205
144MP0001188_hyperpigmentation0.74253299
145MP0002138_abnormal_hepatobiliary_system0.74074681
146MP0001958_emphysema0.73331423
147MP0002136_abnormal_kidney_physiology0.72000195
148MP0009384_cardiac_valve_regurgitation0.71860021
149MP0004085_abnormal_heartbeat0.71115527
150MP0002084_abnormal_developmental_patter0.69820839
151MP0000427_abnormal_hair_cycle0.69278109
152MP0009115_abnormal_fat_cell0.68954841
153MP0005266_abnormal_metabolism0.68216547
154MP0001963_abnormal_hearing_physiology0.68015603
155MP0002796_impaired_skin_barrier0.67065069
156MP0002128_abnormal_blood_circulation0.65781372
157MP0005409_darkened_coat_color0.65486278
158MP0002822_catalepsy0.64554620
159MP0009053_abnormal_anal_canal0.64491995
160MP0002653_abnormal_ependyma_morphology0.64042259
161MP0003567_abnormal_fetal_cardiomyocyte0.63744234
162MP0005623_abnormal_meninges_morphology0.63572138
163MP0001486_abnormal_startle_reflex0.63539474
164MP0002132_abnormal_respiratory_system0.63158592
165MP0010678_abnormal_skin_adnexa0.62162549
166MP0002896_abnormal_bone_mineralization0.61947943
167MP0003950_abnormal_plasma_membrane0.61557563
168MP0001542_abnormal_bone_strength0.61540558
169MP0000537_abnormal_urethra_morphology0.61445264
170MP0001849_ear_inflammation0.60504740
171MP0001764_abnormal_homeostasis0.59449412
172MP0003693_abnormal_embryo_hatching0.58983295
173MP0002116_abnormal_craniofacial_bone0.58631647
174MP0008789_abnormal_olfactory_epithelium0.58479564
175MP0003121_genomic_imprinting0.57733645
176MP0009745_abnormal_behavioral_response0.56502567
177MP0000026_abnormal_inner_ear0.56065640
178MP0009379_abnormal_foot_pigmentation0.55004568
179MP0000767_abnormal_smooth_muscle0.52574432
180MP0003938_abnormal_ear_development0.52391896
181MP0005388_respiratory_system_phenotype0.51211223
182MP0002133_abnormal_respiratory_system0.51211223

Predicted human phenotypes

RankGene SetZ-score
1Gonadal dysgenesis (HP:0000133)8.13199573
2Anomalous pulmonary venous return (HP:0010772)7.18577856
3Abnormality of the pulmonary veins (HP:0011718)6.43234015
4Mesangial abnormality (HP:0001966)6.42169294
5Testicular neoplasm (HP:0010788)6.35248967
6Abnormality of the lower motor neuron (HP:0002366)5.69385916
7Osteomalacia (HP:0002749)5.56393152
8Hypoplastic left heart (HP:0004383)5.42192207
9Shoulder girdle muscle weakness (HP:0003547)5.37509700
10Myoglobinuria (HP:0002913)4.93506822
11Upper motor neuron abnormality (HP:0002127)4.59088135
12Exercise-induced muscle cramps (HP:0003710)4.55583940
13Exercise-induced myalgia (HP:0003738)4.44692565
14Abnormal ventriculo-arterial connection (HP:0011563)4.44353026
15Transposition of the great arteries (HP:0001669)4.44353026
16Abnormal connection of the cardiac segments (HP:0011545)4.44353026
17Male pseudohermaphroditism (HP:0000037)4.42685536
18True hermaphroditism (HP:0010459)4.40673490
19Hypoplastic heart (HP:0001961)4.29617710
20Amyotrophic lateral sclerosis (HP:0007354)4.26239027
21Rimmed vacuoles (HP:0003805)4.18045387
22Abnormality of the vocal cords (HP:0008777)4.05302499
23Ketoacidosis (HP:0001993)3.82480621
24Ketosis (HP:0001946)3.81339857
25Hypoglycemic coma (HP:0001325)3.80815666
26Hyporeflexia of lower limbs (HP:0002600)3.75503648
27Rhabdomyolysis (HP:0003201)3.68958167
28Sudden death (HP:0001699)3.67773902
29Hyperglycinuria (HP:0003108)3.63915564
30Germ cell neoplasia (HP:0100728)3.59430749
31Increased connective tissue (HP:0009025)3.55976046
32Preauricular pit (HP:0004467)3.50568715
33Periauricular skin pits (HP:0100277)3.50568715
34Right ventricular cardiomyopathy (HP:0011663)3.49432416
35Hyperammonemia (HP:0001987)3.46212709
36Difficulty running (HP:0009046)3.46128956
37Clumsiness (HP:0002312)3.46063924
38Abnormality of fatty-acid metabolism (HP:0004359)3.41458563
39Muscle fiber splitting (HP:0003555)3.38535543
40Sex reversal (HP:0012245)3.38498588
41Abnormal sex determination (HP:0012244)3.38498588
42Ventricular tachycardia (HP:0004756)3.31387370
43Male infertility (HP:0003251)3.28403824
44Asymmetric septal hypertrophy (HP:0001670)3.24006877
45Calf muscle hypertrophy (HP:0008981)3.22242580
46Abnormality of glycine metabolism (HP:0010895)3.16482750
47Abnormality of serine family amino acid metabolism (HP:0010894)3.16482750
48Xanthomatosis (HP:0000991)3.15185623
49Abnormal lung lobation (HP:0002101)3.10460477
50Deep venous thrombosis (HP:0002625)3.02894574
51Muscle hypertrophy of the lower extremities (HP:0008968)3.02469527
52Female pseudohermaphroditism (HP:0010458)3.00999741
53Intrahepatic cholestasis (HP:0001406)2.87900956
54Hypoplasia of the uterus (HP:0000013)2.87150339
55Abnormality of dicarboxylic acid metabolism (HP:0010995)2.84147339
56Dicarboxylic aciduria (HP:0003215)2.84147339
57Bulbar palsy (HP:0001283)2.82871373
58Gonadotropin excess (HP:0000837)2.82463219
59Volvulus (HP:0002580)2.81059197
60Diaphragmatic weakness (HP:0009113)2.78118539
61Type 1 muscle fiber predominance (HP:0003803)2.75799348
62Difficulty climbing stairs (HP:0003551)2.74122182
63Gout (HP:0001997)2.72558604
64Atrophy/Degeneration involving motor neurons (HP:0007373)2.70180873
65Lipoatrophy (HP:0100578)2.67910990
66Abnormality of the calf musculature (HP:0001430)2.66944382
67Hypoalphalipoproteinemia (HP:0003233)2.60160229
68Abnormality of glutamine family amino acid metabolism (HP:0010902)2.57873431
69Hyperglycinemia (HP:0002154)2.51609549
70Bundle branch block (HP:0011710)2.47059006
71Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.46423364
72Primary adrenal insufficiency (HP:0008207)2.45500350
73Abnormality of DNA repair (HP:0003254)2.43615489
74Stridor (HP:0010307)2.43048224
75Nephroblastoma (Wilms tumor) (HP:0002667)2.42531586
76Ectopic kidney (HP:0000086)2.41941632
77Abnormality of monocarboxylic acid metabolism (HP:0010996)2.40596900
78Skin pits (HP:0100276)2.40144397
79Muscle stiffness (HP:0003552)2.39703781
80Subaortic stenosis (HP:0001682)2.39425968
81Abnormality of the left ventricular outflow tract (HP:0011103)2.39425968
82Focal segmental glomerulosclerosis (HP:0000097)2.39042382
83EMG: myopathic abnormalities (HP:0003458)2.37896324
84Lymphangioma (HP:0100764)2.37662230
85Tachypnea (HP:0002789)2.36974061
86Abnormality of the renal collecting system (HP:0004742)2.35307287
87Abnormality of aromatic amino acid family metabolism (HP:0004338)2.31968080
88Stage 5 chronic kidney disease (HP:0003774)2.31847276
89Myotonia (HP:0002486)2.31846747
90Cerebral aneurysm (HP:0004944)2.29027030
91Abnormality of purine metabolism (HP:0004352)2.28298729
92Embryonal renal neoplasm (HP:0011794)2.27452036
93Dilated cardiomyopathy (HP:0001644)2.25555291
94Palpitations (HP:0001962)2.25434753
95Muscle fiber inclusion bodies (HP:0100299)2.24988754
96Conjunctival hamartoma (HP:0100780)2.23555682
97Atrioventricular block (HP:0001678)2.21828826
98Hyperlipoproteinemia (HP:0010980)2.21291129
99Preaxial foot polydactyly (HP:0001841)2.19412966
100Abnormality of the proximal phalanges of the hand (HP:0009834)2.19060090
101Back pain (HP:0003418)2.18843584
102Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.18518249
103Mediastinal lymphadenopathy (HP:0100721)2.16790410
104Skin nodule (HP:0200036)2.14673551
105Chronic hepatic failure (HP:0100626)2.14272709
106Hyperinsulinemic hypoglycemia (HP:0000825)2.14157272
107Proximal tubulopathy (HP:0000114)2.13878134
108Hypolipoproteinemia (HP:0010981)2.13823604
109Hyperuricemia (HP:0002149)2.13526788
110Increased purine levels (HP:0004368)2.13526788
111Limb-girdle muscle atrophy (HP:0003797)2.10747413
112Late onset (HP:0003584)2.10717638
113Abnormality of the Achilles tendon (HP:0005109)2.10556466
114Complement deficiency (HP:0004431)2.10098943
115Heart block (HP:0012722)2.10050882
116Generalized aminoaciduria (HP:0002909)2.09737674
117Increased variability in muscle fiber diameter (HP:0003557)2.09498164
118Genetic anticipation (HP:0003743)2.07678645
119Proximal placement of thumb (HP:0009623)2.07326449
120Broad metatarsal (HP:0001783)2.07152732
121Ventricular arrhythmia (HP:0004308)2.06303433
122Congenital diaphragmatic hernia (HP:0000776)2.06066599
123Metabolic acidosis (HP:0001942)2.05268060
124Frequent falls (HP:0002359)2.05131370
125Atrial fibrillation (HP:0005110)2.04109664
126Abnormal atrioventricular conduction (HP:0005150)2.03582192
127Upper limb amyotrophy (HP:0009129)2.03084733
128Distal upper limb amyotrophy (HP:0007149)2.03084733
129Abnormality of the shoulder girdle musculature (HP:0001435)2.01274172
130Spastic diplegia (HP:0001264)2.00573407
131Hamartoma of the eye (HP:0010568)1.98575564
132Oligodactyly (hands) (HP:0001180)1.98439352
133Abnormality of the nasal septum (HP:0000419)1.97831981
134Nephronophthisis (HP:0000090)1.97295739
135Aneurysm (HP:0002617)1.96671763
136Limb-girdle muscle weakness (HP:0003325)1.95821886
137Abnormality of skeletal muscle fiber size (HP:0012084)1.95786088
138Abnormality of sulfur amino acid metabolism (HP:0004339)1.94247788
139Hydroxyprolinuria (HP:0003080)1.94095481
140Abnormality of proline metabolism (HP:0010907)1.94095481
141Truncal obesity (HP:0001956)1.93885427
142Cholelithiasis (HP:0001081)1.93672272
143Abnormality of the level of lipoprotein cholesterol (HP:0010979)1.92820524
144Protrusio acetabuli (HP:0003179)1.90055998
145Glomerulosclerosis (HP:0000096)1.89944618
146Hyperglycemia (HP:0003074)1.89458493
147Hepatocellular carcinoma (HP:0001402)1.88744485
148Facial diplegia (HP:0001349)1.87358928
149Achilles tendon contracture (HP:0001771)1.86215285
150Thin bony cortex (HP:0002753)1.85780639
151Round ear (HP:0100830)1.83955463
152Long toe (HP:0010511)1.82724715
153Primary atrial arrhythmia (HP:0001692)1.82001907
154Short 1st metacarpal (HP:0010034)1.81653559
155Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)1.81653559
156EMG: neuropathic changes (HP:0003445)1.81646271
157Short femoral neck (HP:0100864)1.81121661
158Hand muscle atrophy (HP:0009130)1.80445669
159Deviation of the thumb (HP:0009603)1.80143566
160Beaking of vertebral bodies (HP:0004568)1.77196529
161Scapular winging (HP:0003691)1.76785584
162Supraventricular arrhythmia (HP:0005115)1.76331751
163Hypobetalipoproteinemia (HP:0003563)1.76116683
164Delayed epiphyseal ossification (HP:0002663)1.76068064
165Mildly elevated creatine phosphokinase (HP:0008180)1.75992122
166Primary amenorrhea (HP:0000786)1.74799441
167Aplasia/Hypoplasia of the tibia (HP:0005772)1.72273952
168Abnormality of the aortic arch (HP:0012303)1.71708096
169Aplasia/hypoplasia of the uterus (HP:0008684)1.68654392
170Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)1.67083400
171Ovarian neoplasm (HP:0100615)1.65871283
172Papilledema (HP:0001085)1.65229601
173Abnormality of the middle phalanges of the toes (HP:0010183)1.65081287
174Testicular atrophy (HP:0000029)1.64963353
175Oligodactyly (HP:0012165)1.64239181
176Rickets (HP:0002748)1.63792547
177Abnormality of the renal medulla (HP:0100957)1.63530205
178Spinal canal stenosis (HP:0003416)1.62929183
179Dry hair (HP:0011359)1.62528979
180Short tibia (HP:0005736)1.62049240
181Synostosis of carpal bones (HP:0005048)1.61328269
182Aplasia/Hypoplasia of the sternum (HP:0006714)1.60947143
183Abnormality of male internal genitalia (HP:0000022)1.57865618
184Decreased circulating renin level (HP:0003351)1.54851060
185Complete atrioventricular canal defect (HP:0001674)1.54367915
186Abnormality of the 1st metacarpal (HP:0010009)1.53440075
187Hypoplastic iliac wings (HP:0002866)1.52868149
188Biconcave vertebral bodies (HP:0004586)1.52246301
189Small hand (HP:0200055)1.52217594
190Tubulointerstitial nephritis (HP:0001970)1.50068678
191Abnormality of the peritoneum (HP:0002585)1.49352279
192Lip pit (HP:0100267)1.48172287
193Abnormality of the phalanges of the 5th finger (HP:0004213)1.46060654
194Embryonal neoplasm (HP:0002898)1.44840481
195Oligodontia (HP:0000677)1.42088753

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDK195.96888440
2PNCK5.30312209
3TRIB35.18856510
4TTN4.34476122
5PKN24.27997613
6ACVR1B4.17395997
7PDK43.22502310
8PDK33.22502310
9BCKDK3.21145505
10EEF2K2.47167728
11ERN12.25241580
12RIPK12.23153698
13NEK12.14661415
14SIK12.05528222
15LMTK22.01917715
16SGK21.97630100
17MAP3K101.91321112
18PDK21.89031236
19TNK21.84600389
20TLK11.81292024
21SGK2231.80174215
22SGK4941.80174215
23PTK61.79683288
24FLT31.79002046
25FGFR41.75616840
26RPS6KA21.73266155
27RPS6KA61.71985689
28OBSCN1.66665536
29RPS6KL11.61832430
30RPS6KC11.61832430
31MAP2K31.59486167
32PDGFRA1.57627242
33PHKG11.53857789
34PHKG21.53857789
35MAP3K71.48800239
36AKT31.43000466
37MAP2K21.42300847
38OXSR11.42132141
39SGK11.32495765
40PRKD31.32202051
41WNK41.31111365
42LRRK21.29460650
43PLK41.27317288
44MARK21.22450058
45ZAK1.18341353
46NTRK31.11515255
47LATS11.08709970
48ICK1.08428121
49TAOK31.02101901
50NLK1.01597925
51SIK21.01495139
52CAMK1D0.97580499
53GRK10.94221617
54BMPR1B0.92899189
55RPS6KA10.91224039
56CAMKK10.91176950
57AURKA0.90489408
58MYLK0.89602130
59MAP3K30.89255847
60MAPKAPK30.89152863
61MTOR0.88961027
62STK380.88109796
63DMPK0.86446925
64FGR0.86268731
65MUSK0.83733745
66CAMK1G0.83509600
67FRK0.82528554
68PRKCH0.82181629
69PRKAA20.82067503
70RET0.80910329
71BRAF0.77433452
72MAP3K130.77275283
73PRKAA10.76466935
74STK110.75426364
75CDK120.75212349
76DYRK1A0.74866877
77ADRBK20.73466887
78MAPK110.73246436
79MAPK120.72298995
80PAK20.71969915
81ILK0.69923950
82PIK3CA0.69784915
83BMX0.68577042
84PRKD10.67175513
85PINK10.67079253
86CSF1R0.66217696
87EPHB10.65779388
88NEK20.65149830
89KSR20.65035108
90STK38L0.64841733
91PTK20.64579648
92MAP3K90.64398034
93CDK60.64169485
94PAK30.64009773
95CAMK10.62760754
96JAK10.62367937
97PDK10.62265551
98MST1R0.61892309
99CDK40.61248864
100PDPK10.60183361
101ATR0.59697556
102PAK40.59572311
103RPS6KA30.58848624
104TGFBR20.58605776
105MAP2K40.57318936
106PIK3CG0.57219280
107MAP4K10.56071211
108DYRK1B0.55608786
109STK100.54805188
110MAP2K60.54436762
111JAK20.54327970
112TYK20.53918233
113MAP3K10.53871275
114PLK10.53695269
115RPS6KB10.53151825
116MAP3K110.52960514
117FGFR10.52935220
118PDGFRB0.52324459
119FER0.51707223
120TESK10.51623484
121TIE10.51221978
122FGFR30.50803622
123SGK30.49386107
124CHEK10.49197385
125FGFR20.49181451
126PIM10.49041021
127EPHA20.48008567
128WNK10.46287230
129INSRR0.46069047
130PRKACA0.45460529
131TYRO30.44620236
132PRKCZ0.44541122
133AKT20.44332840
134STK390.42648834
135MAPK10.42167216
136TBK10.42152597
137ALK0.42132221
138MAP3K20.41993124
139CAMKK20.41959015
140ROCK10.41949731
141KDR0.40867676
142MARK30.40536904
143PRKACG0.40482151
144TAOK10.40219187
145MET0.40213411
146DDR20.40069577
147CDC42BPA0.38962815
148STK30.38062430
149PTK2B0.37702488
150MELK0.37152789
151MAPK150.36933008
152NEK90.36777990
153ATM0.36760024
154STK240.36585934
155PRKCI0.36501893
156RPS6KB20.36470328
157MATK0.35338920
158EPHA40.35040573
159PRKD20.34843299
160MAPK70.34705218
161ZAP700.33887679
162ADRBK10.33438832
163PAK60.32997398
164CAMK40.32752234
165MAP2K10.31627248
166ABL20.31510497
167GRK70.28930203

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.08697505
2Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005333.82955158
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.79933975
4Dorso-ventral axis formation_Homo sapiens_hsa043203.51528831
5Fatty acid degradation_Homo sapiens_hsa000713.43780291
6Propanoate metabolism_Homo sapiens_hsa006403.34985864
7Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.34316637
8Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.97245461
9Nitrogen metabolism_Homo sapiens_hsa009102.85077289
10Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.72240829
11Fatty acid metabolism_Homo sapiens_hsa012122.63261306
12Carbon metabolism_Homo sapiens_hsa012002.50220263
13Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.35054267
14Pyruvate metabolism_Homo sapiens_hsa006202.30057931
15Arginine biosynthesis_Homo sapiens_hsa002202.23894896
16PPAR signaling pathway_Homo sapiens_hsa033202.14281396
17Regulation of autophagy_Homo sapiens_hsa041402.09329802
18Primary bile acid biosynthesis_Homo sapiens_hsa001202.07754243
19Tryptophan metabolism_Homo sapiens_hsa003802.07028970
20Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.05727521
21Butanoate metabolism_Homo sapiens_hsa006501.91718981
22Vitamin digestion and absorption_Homo sapiens_hsa049771.88649622
23Biosynthesis of amino acids_Homo sapiens_hsa012301.79112264
24Base excision repair_Homo sapiens_hsa034101.77406290
25Lysine degradation_Homo sapiens_hsa003101.75175342
26Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.74013883
27Linoleic acid metabolism_Homo sapiens_hsa005911.73705951
28Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.70174393
29Hedgehog signaling pathway_Homo sapiens_hsa043401.67568740
30Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.66009127
31Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.62915274
32Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.55418321
33Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.54739245
34Homologous recombination_Homo sapiens_hsa034401.49657730
35Peroxisome_Homo sapiens_hsa041461.45307490
36beta-Alanine metabolism_Homo sapiens_hsa004101.42200184
37Fanconi anemia pathway_Homo sapiens_hsa034601.39780711
38alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.36986928
39Starch and sucrose metabolism_Homo sapiens_hsa005001.34210569
40Pentose and glucuronate interconversions_Homo sapiens_hsa000401.33646352
41Bile secretion_Homo sapiens_hsa049761.33088544
42Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.32316227
43TGF-beta signaling pathway_Homo sapiens_hsa043501.28226857
44Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.27158007
45Basal cell carcinoma_Homo sapiens_hsa052171.26878065
46Fatty acid biosynthesis_Homo sapiens_hsa000611.23564421
47Selenocompound metabolism_Homo sapiens_hsa004501.21915340
48Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.20819486
49Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.18754268
50Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.18405529
51Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.17230653
52MAPK signaling pathway_Homo sapiens_hsa040101.14357210
53Insulin resistance_Homo sapiens_hsa049311.12201346
54Adipocytokine signaling pathway_Homo sapiens_hsa049201.09958555
55Caffeine metabolism_Homo sapiens_hsa002321.08677160
56Cholinergic synapse_Homo sapiens_hsa047251.08212311
57Insulin secretion_Homo sapiens_hsa049111.07721386
58Ovarian steroidogenesis_Homo sapiens_hsa049131.05899419
59Fat digestion and absorption_Homo sapiens_hsa049751.05336507
60ABC transporters_Homo sapiens_hsa020101.03824963
61Dilated cardiomyopathy_Homo sapiens_hsa054141.03791953
62Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.02346416
63Cyanoamino acid metabolism_Homo sapiens_hsa004601.01517673
64Glucagon signaling pathway_Homo sapiens_hsa049221.00842822
65Calcium signaling pathway_Homo sapiens_hsa040200.99896435
66Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.99692005
67Pentose phosphate pathway_Homo sapiens_hsa000300.99258799
68Nicotine addiction_Homo sapiens_hsa050330.99126657
69Complement and coagulation cascades_Homo sapiens_hsa046100.98374335
70Nucleotide excision repair_Homo sapiens_hsa034200.98157249
71Glycerolipid metabolism_Homo sapiens_hsa005610.97434860
72Oocyte meiosis_Homo sapiens_hsa041140.95592237
73Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.94780234
74Transcriptional misregulation in cancer_Homo sapiens_hsa052020.93335550
75Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.90550084
76Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.89339730
77AMPK signaling pathway_Homo sapiens_hsa041520.88182660
78Glycerophospholipid metabolism_Homo sapiens_hsa005640.87935924
79Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.86180694
80Basal transcription factors_Homo sapiens_hsa030220.85983622
81Fatty acid elongation_Homo sapiens_hsa000620.85594644
82Melanoma_Homo sapiens_hsa052180.85084111
83Morphine addiction_Homo sapiens_hsa050320.84527364
84mRNA surveillance pathway_Homo sapiens_hsa030150.83141917
85Fructose and mannose metabolism_Homo sapiens_hsa000510.82486230
86Ether lipid metabolism_Homo sapiens_hsa005650.81877381
87Cysteine and methionine metabolism_Homo sapiens_hsa002700.80664974
88Phenylalanine metabolism_Homo sapiens_hsa003600.80087733
89Central carbon metabolism in cancer_Homo sapiens_hsa052300.79960532
90Sulfur metabolism_Homo sapiens_hsa009200.79949770
91Mismatch repair_Homo sapiens_hsa034300.78619899
92Insulin signaling pathway_Homo sapiens_hsa049100.78022575
93Arginine and proline metabolism_Homo sapiens_hsa003300.77834810
94Cardiac muscle contraction_Homo sapiens_hsa042600.74408096
95Sulfur relay system_Homo sapiens_hsa041220.71948232
96Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.71415686
97Galactose metabolism_Homo sapiens_hsa000520.70692542
98Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.63504445
99Glutamatergic synapse_Homo sapiens_hsa047240.62479817
100Chemical carcinogenesis_Homo sapiens_hsa052040.62389439
101Drug metabolism - other enzymes_Homo sapiens_hsa009830.61831115
102Serotonergic synapse_Homo sapiens_hsa047260.60534552
103Axon guidance_Homo sapiens_hsa043600.60295401
104ErbB signaling pathway_Homo sapiens_hsa040120.57783969
105Gastric acid secretion_Homo sapiens_hsa049710.57611099
106Phototransduction_Homo sapiens_hsa047440.57458399
107Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.57310995
108Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.56815322
109Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.56686898
110Phospholipase D signaling pathway_Homo sapiens_hsa040720.56433272
111Tyrosine metabolism_Homo sapiens_hsa003500.56422318
112Taste transduction_Homo sapiens_hsa047420.56267107
113Aldosterone synthesis and secretion_Homo sapiens_hsa049250.56110408
114cAMP signaling pathway_Homo sapiens_hsa040240.55827921
115Circadian entrainment_Homo sapiens_hsa047130.54148533
116Oxytocin signaling pathway_Homo sapiens_hsa049210.53097132
117Choline metabolism in cancer_Homo sapiens_hsa052310.52553346
118Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.52425487
119Carbohydrate digestion and absorption_Homo sapiens_hsa049730.49369972
120Rap1 signaling pathway_Homo sapiens_hsa040150.49336959
121Focal adhesion_Homo sapiens_hsa045100.48835451
122Wnt signaling pathway_Homo sapiens_hsa043100.47350221
123Inositol phosphate metabolism_Homo sapiens_hsa005620.46424320
124Ras signaling pathway_Homo sapiens_hsa040140.46302535
125Renin secretion_Homo sapiens_hsa049240.45732153
126Arachidonic acid metabolism_Homo sapiens_hsa005900.45626022
127Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.44414275
128RNA transport_Homo sapiens_hsa030130.44143522
129Retinol metabolism_Homo sapiens_hsa008300.42932964
130Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.42854761
131Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.41870984
132Histidine metabolism_Homo sapiens_hsa003400.41551161
133mTOR signaling pathway_Homo sapiens_hsa041500.40555440
134ECM-receptor interaction_Homo sapiens_hsa045120.35326751
135Type II diabetes mellitus_Homo sapiens_hsa049300.35289520
136Bladder cancer_Homo sapiens_hsa052190.33585832
137Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.31834024
138Viral myocarditis_Homo sapiens_hsa054160.31100548
139Maturity onset diabetes of the young_Homo sapiens_hsa049500.30252651
140Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.29997214
141Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.29463336
142One carbon pool by folate_Homo sapiens_hsa006700.29416649
143Proteoglycans in cancer_Homo sapiens_hsa052050.28570552
144Small cell lung cancer_Homo sapiens_hsa052220.28041913
145Longevity regulating pathway - mammal_Homo sapiens_hsa042110.27903683
146Thyroid hormone signaling pathway_Homo sapiens_hsa049190.27460239
147Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.27447775
148Glutathione metabolism_Homo sapiens_hsa004800.26866341
149Protein digestion and absorption_Homo sapiens_hsa049740.26148810
150Amoebiasis_Homo sapiens_hsa051460.24373915
151Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.24324483
152Chronic myeloid leukemia_Homo sapiens_hsa052200.24068970
153Staphylococcus aureus infection_Homo sapiens_hsa051500.23432945
154HIF-1 signaling pathway_Homo sapiens_hsa040660.23407360
155Metabolic pathways_Homo sapiens_hsa011000.22808317
156Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.21611502
157cGMP-PKG signaling pathway_Homo sapiens_hsa040220.18804520
158Thyroid hormone synthesis_Homo sapiens_hsa049180.18485281
159Adherens junction_Homo sapiens_hsa045200.16892006
160Tight junction_Homo sapiens_hsa045300.16799796
161Glycosaminoglycan degradation_Homo sapiens_hsa005310.16398877
162Steroid hormone biosynthesis_Homo sapiens_hsa001400.15039018

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