IBA57

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 localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1branching involved in labyrinthine layer morphogenesis (GO:0060670)7.31959515
2response to lipoprotein particle (GO:0055094)6.38241865
3negative regulation of telomerase activity (GO:0051974)5.97347425
4lysine metabolic process (GO:0006553)5.73257360
5lysine catabolic process (GO:0006554)5.73257360
6positive regulation of fatty acid oxidation (GO:0046321)5.72849436
7erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)5.29020895
8L-phenylalanine metabolic process (GO:0006558)5.29020895
9behavioral response to nicotine (GO:0035095)5.07710415
10triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.04617116
11L-phenylalanine catabolic process (GO:0006559)4.99849460
12erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.99849460
13positive regulation of oligodendrocyte differentiation (GO:0048714)4.95111619
14NADH dehydrogenase complex assembly (GO:0010257)4.86122568
15mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.86122568
16mitochondrial respiratory chain complex I assembly (GO:0032981)4.86122568
17kynurenine metabolic process (GO:0070189)4.84949967
18DNA deamination (GO:0045006)4.83899296
192-oxoglutarate metabolic process (GO:0006103)4.76111239
20glyoxylate metabolic process (GO:0046487)4.75873211
21fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.69481112
22cell proliferation in forebrain (GO:0021846)4.62106732
23cysteine metabolic process (GO:0006534)4.61542829
24aromatic amino acid family catabolic process (GO:0009074)4.61068769
25somite development (GO:0061053)4.60448202
26white fat cell differentiation (GO:0050872)4.54812933
27alpha-linolenic acid metabolic process (GO:0036109)4.51883126
28amino-acid betaine metabolic process (GO:0006577)4.49959900
29prostate gland growth (GO:0060736)4.42569928
30aspartate family amino acid catabolic process (GO:0009068)4.41201992
31spindle assembly involved in mitosis (GO:0090307)4.34959419
32tryptophan catabolic process (GO:0006569)4.32564494
33indole-containing compound catabolic process (GO:0042436)4.32564494
34indolalkylamine catabolic process (GO:0046218)4.32564494
35regulation of triglyceride catabolic process (GO:0010896)4.31229753
36sulfur amino acid catabolic process (GO:0000098)4.28696347
37protoporphyrinogen IX metabolic process (GO:0046501)4.22796080
38fatty acid beta-oxidation (GO:0006635)4.16734676
39regulation of telomerase activity (GO:0051972)4.12739957
40sulfation (GO:0051923)4.10623526
41mitochondrion morphogenesis (GO:0070584)4.10525428
42carnitine metabolic process (GO:0009437)4.09226557
43peptidyl-glutamic acid carboxylation (GO:0017187)4.03209173
44protein carboxylation (GO:0018214)4.03209173
45ethanol oxidation (GO:0006069)4.02874215
46tryptophan metabolic process (GO:0006568)3.99571159
47valine metabolic process (GO:0006573)3.98981637
48oxaloacetate metabolic process (GO:0006107)3.96505758
49short-chain fatty acid metabolic process (GO:0046459)3.94586552
50bile acid biosynthetic process (GO:0006699)3.94174160
51urea cycle (GO:0000050)3.92563963
52urea metabolic process (GO:0019627)3.92563963
53* serine family amino acid catabolic process (GO:0009071)3.90902492
54high-density lipoprotein particle remodeling (GO:0034375)3.89627650
55homocysteine metabolic process (GO:0050667)3.88214988
56inner cell mass cell proliferation (GO:0001833)3.88094381
57* glycine metabolic process (GO:0006544)3.87515596
58protoporphyrinogen IX biosynthetic process (GO:0006782)3.86611299
59negative regulation of fibrinolysis (GO:0051918)3.86433509
60response to caffeine (GO:0031000)3.84649010
61negative regulation of macrophage derived foam cell differentiation (GO:0010745)3.83524120
62protein complex biogenesis (GO:0070271)3.80526169
63fatty acid oxidation (GO:0019395)3.79161459
64purine ribonucleoside bisphosphate metabolic process (GO:0034035)3.77546913
653-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)3.77546913
66regulation of cell proliferation involved in kidney development (GO:1901722)3.76029294
67negative regulation of sterol transport (GO:0032372)3.74135260
68negative regulation of cholesterol transport (GO:0032375)3.74135260
69negative regulation of systemic arterial blood pressure (GO:0003085)3.73673951
70fatty acid catabolic process (GO:0009062)3.73526083
71fatty acid transmembrane transport (GO:1902001)3.72456399
72lipid oxidation (GO:0034440)3.71783721
73cellular ketone body metabolic process (GO:0046950)3.70824976
74positive regulation of glomerulus development (GO:0090193)3.67210946
75cellular response to lithium ion (GO:0071285)3.67065327
76acetyl-CoA metabolic process (GO:0006084)3.65950656
77phospholipid efflux (GO:0033700)3.65881163
78regulation of collateral sprouting (GO:0048670)3.65852855
79* heme biosynthetic process (GO:0006783)3.65330294
80tricarboxylic acid metabolic process (GO:0072350)3.65051589
81* porphyrin-containing compound biosynthetic process (GO:0006779)3.64915242
82cellular response to ATP (GO:0071318)3.63943475
83negative regulation of DNA biosynthetic process (GO:2000279)3.63815900
84regulation of glomerulus development (GO:0090192)3.63483049
85carnitine shuttle (GO:0006853)3.62707634
86negative regulation of acute inflammatory response (GO:0002674)3.62074753
87nitrogen cycle metabolic process (GO:0071941)3.60604293
88* alpha-amino acid catabolic process (GO:1901606)3.59758806
89mitochondrial respiratory chain complex assembly (GO:0033108)3.59458437
90spinal cord development (GO:0021510)3.56909995
91triglyceride homeostasis (GO:0070328)3.56460470
92acylglycerol homeostasis (GO:0055090)3.56460470
93plasma lipoprotein particle assembly (GO:0034377)3.56441397
94regulation of protein activation cascade (GO:2000257)3.55783956
95plasma lipoprotein particle clearance (GO:0034381)3.53414021
96* serine family amino acid metabolic process (GO:0009069)3.52374029
97reverse cholesterol transport (GO:0043691)3.50513645
98monocarboxylic acid catabolic process (GO:0072329)3.50267344
99phospholipid homeostasis (GO:0055091)3.49419463
100regulation of fibrinolysis (GO:0051917)3.48511181
101dicarboxylic acid biosynthetic process (GO:0043650)3.47163022
102protein-lipid complex remodeling (GO:0034368)3.43465442
103macromolecular complex remodeling (GO:0034367)3.43465442
104plasma lipoprotein particle remodeling (GO:0034369)3.43465442
105cellular modified amino acid catabolic process (GO:0042219)3.43082641
106* tetrapyrrole biosynthetic process (GO:0033014)3.42209421
107regulation of sequestering of triglyceride (GO:0010889)3.42021592
108aromatic amino acid family metabolic process (GO:0009072)3.41672700
109anterior/posterior axis specification, embryo (GO:0008595)3.40983237
110coenzyme catabolic process (GO:0009109)3.40972170
111* heme metabolic process (GO:0042168)3.40210049
112negative regulation of fatty acid biosynthetic process (GO:0045717)3.39552669
113* cellular amino acid catabolic process (GO:0009063)3.37054033
114centrosome duplication (GO:0051298)3.36868530
115complement activation, alternative pathway (GO:0006957)3.36446631
116* porphyrin-containing compound metabolic process (GO:0006778)3.36152220
117bile acid metabolic process (GO:0008206)3.34274889
118blood coagulation, intrinsic pathway (GO:0007597)3.34231064
119regulation of cholesterol storage (GO:0010885)3.32835372
120regulation of hippo signaling (GO:0035330)3.32468037
121tricarboxylic acid cycle (GO:0006099)3.31678359
122regulation of fatty acid oxidation (GO:0046320)3.31254685
123regulation of cholesterol esterification (GO:0010872)3.30630246
124regulation of complement activation (GO:0030449)3.30200424
125cofactor catabolic process (GO:0051187)3.25715677
126indolalkylamine metabolic process (GO:0006586)3.25547711
127regulation of cholesterol homeostasis (GO:2000188)3.25386670
128* organic acid catabolic process (GO:0016054)3.25381107
129* carboxylic acid catabolic process (GO:0046395)3.25381107
130regulation of fatty acid beta-oxidation (GO:0031998)3.25044473
131positive regulation of inositol phosphate biosynthetic process (GO:0060732)3.24650915
132microtubule cytoskeleton organization involved in mitosis (GO:1902850)3.24553002
133positive regulation of fatty acid beta-oxidation (GO:0032000)3.23691557
134lateral sprouting from an epithelium (GO:0060601)3.21896612
135protein-lipid complex assembly (GO:0065005)3.20517022
136glutamate metabolic process (GO:0006536)3.19266012
137positive regulation of lipid catabolic process (GO:0050996)3.18723295
138ketone body metabolic process (GO:1902224)3.18110019
139negative regulation of astrocyte differentiation (GO:0048712)3.16875688
140positive regulation of triglyceride lipase activity (GO:0061365)3.16863542
141positive regulation of lipoprotein lipase activity (GO:0051006)3.16863542
142DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla3.14311017
143NADH metabolic process (GO:0006734)3.14196382
144serine family amino acid biosynthetic process (GO:0009070)3.13402959
145membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.12683759
146synapsis (GO:0007129)3.12535532
147negative regulation of Rho protein signal transduction (GO:0035024)3.12420275
148drug transmembrane transport (GO:0006855)3.12206367
149lung-associated mesenchyme development (GO:0060484)3.10988008
150endoderm formation (GO:0001706)3.06905958
151ventricular septum development (GO:0003281)3.03443922
152pharyngeal system development (GO:0060037)3.02395696
153lymphangiogenesis (GO:0001946)2.98964599
154cell differentiation involved in embryonic placenta development (GO:0060706)2.95398874
155peristalsis (GO:0030432)2.93305176
156flavonoid metabolic process (GO:0009812)2.92719288
157preassembly of GPI anchor in ER membrane (GO:0016254)2.91726788
158regulation of mesoderm development (GO:2000380)2.91081483
159protein polyglutamylation (GO:0018095)2.90865815
160water-soluble vitamin biosynthetic process (GO:0042364)2.89985676
161embryonic epithelial tube formation (GO:0001838)2.88697503
162negative regulation of mast cell activation (GO:0033004)2.86253654
163negative regulation of lipid storage (GO:0010888)2.81205715
164lung morphogenesis (GO:0060425)2.77134274
165cornea development in camera-type eye (GO:0061303)2.76488525
166peripheral nervous system axon ensheathment (GO:0032292)2.73469173
167myelination in peripheral nervous system (GO:0022011)2.73469173
168regulation of tight junction assembly (GO:2000810)2.71910821
169DNA damage response, signal transduction resulting in transcription (GO:0042772)2.71772869
170detection of light stimulus involved in visual perception (GO:0050908)2.71458130
171detection of light stimulus involved in sensory perception (GO:0050962)2.71458130
172positive regulation of mitochondrial fission (GO:0090141)2.70487010
173mitochondrial fusion (GO:0008053)2.69476945
174dentate gyrus development (GO:0021542)2.67234539
175DNA methylation involved in gamete generation (GO:0043046)2.66545605
176epithelial tube formation (GO:0072175)2.66497182
177positive regulation of cAMP-mediated signaling (GO:0043950)2.65887783
178otic vesicle formation (GO:0030916)2.62279426
179positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.60757359
180interkinetic nuclear migration (GO:0022027)2.59850534
181regulation of gene silencing by RNA (GO:0060966)2.59427817
182regulation of posttranscriptional gene silencing (GO:0060147)2.59427817
183regulation of gene silencing by miRNA (GO:0060964)2.59427817
184brown fat cell differentiation (GO:0050873)2.58796694
185regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.56888155
186artery development (GO:0060840)2.56221774
187regulation of receptor binding (GO:1900120)2.54629097
188double-strand break repair via homologous recombination (GO:0000724)2.51262823
189fucose catabolic process (GO:0019317)2.51199113
190L-fucose metabolic process (GO:0042354)2.51199113
191L-fucose catabolic process (GO:0042355)2.51199113
192regulation of transcription involved in cell fate commitment (GO:0060850)2.50502455
193replication fork processing (GO:0031297)2.48108579

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse7.42427491
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.15516365
3RXR_22158963_ChIP-Seq_LIVER_Mouse4.94885804
4PPARA_22158963_ChIP-Seq_LIVER_Mouse4.65380388
5STAT6_21828071_ChIP-Seq_BEAS2B_Human4.60051977
6LXR_22158963_ChIP-Seq_LIVER_Mouse3.69826074
7EZH2_22144423_ChIP-Seq_EOC_Human3.45203669
8EGR1_23403033_ChIP-Seq_LIVER_Mouse3.36129112
9ZNF274_21170338_ChIP-Seq_K562_Hela3.30742621
10FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.30145129
11GBX2_23144817_ChIP-Seq_PC3_Human3.17634123
12EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.02724813
13* CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.94432505
14ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.85921025
15CBX2_27304074_Chip-Seq_ESCs_Mouse2.52219941
16TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.49489771
17GATA1_22025678_ChIP-Seq_K562_Human2.39449649
18BMI1_23680149_ChIP-Seq_NPCS_Mouse2.37826074
19TP63_19390658_ChIP-ChIP_HaCaT_Human2.34249510
20RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.27435325
21GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.26189148
22NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.25727157
23MYC_22102868_ChIP-Seq_BL_Human2.24413483
24CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.19424154
25FUS_26573619_Chip-Seq_HEK293_Human2.18126367
26HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.17163970
27VDR_22108803_ChIP-Seq_LS180_Human2.09546776
28EED_16625203_ChIP-ChIP_MESCs_Mouse2.08524238
29ZFP57_27257070_Chip-Seq_ESCs_Mouse2.04980678
30JARID2_20064375_ChIP-Seq_MESCs_Mouse2.04657745
31TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.97312170
32IRF8_22096565_ChIP-ChIP_GC-B_Human1.97170445
33JARID2_20075857_ChIP-Seq_MESCs_Mouse1.96390471
34EZH2_27304074_Chip-Seq_ESCs_Mouse1.96129644
35EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.88999913
36CTBP2_25329375_ChIP-Seq_LNCAP_Human1.85805196
37TDRD3_21172665_ChIP-Seq_MCF-7_Human1.85308213
38CTBP1_25329375_ChIP-Seq_LNCAP_Human1.82924610
39ER_23166858_ChIP-Seq_MCF-7_Human1.81717747
40VDR_21846776_ChIP-Seq_THP-1_Human1.81151294
41THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.78649475
42HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.77128096
43MYC_18940864_ChIP-ChIP_HL60_Human1.76028854
44IRF1_19129219_ChIP-ChIP_H3396_Human1.75914167
45BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.75479792
46TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.73538235
47SCL_19346495_ChIP-Seq_HPC-7_Human1.68802987
48RNF2_27304074_Chip-Seq_NSC_Mouse1.63414127
49AHR_22903824_ChIP-Seq_MCF-7_Human1.63212662
50GATA1_19941827_ChIP-Seq_MEL_Mouse1.60433965
51ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.59815356
52CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.56530282
53IGF1R_20145208_ChIP-Seq_DFB_Human1.53313836
54AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.51827219
55MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.51200761
56LXR_22292898_ChIP-Seq_THP-1_Human1.50314472
57EWS_26573619_Chip-Seq_HEK293_Human1.49711363
58STAT3_1855785_ChIP-Seq_MESCs_Mouse1.48874790
59GATA1_22383799_ChIP-Seq_G1ME_Mouse1.47297327
60HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.47003518
61GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.46748567
62P300_19829295_ChIP-Seq_ESCs_Human1.45908881
63MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.45799943
64GATA1_19941826_ChIP-Seq_K562_Human1.44831935
65NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.44391899
66ARNT_22903824_ChIP-Seq_MCF-7_Human1.43916052
67RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.43450465
68TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.42359358
69AUTS2_25519132_ChIP-Seq_293T-REX_Human1.40339611
70MAF_26560356_Chip-Seq_TH1_Human1.39603329
71TCF7_22412390_ChIP-Seq_EML_Mouse1.38075079
72ZNF263_19887448_ChIP-Seq_K562_Human1.38023523
73RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.36887569
74BRD4_27068464_Chip-Seq_AML-cells_Mouse1.34784494
75RNF2_18974828_ChIP-Seq_MESCs_Mouse1.34178405
76EZH2_18974828_ChIP-Seq_MESCs_Mouse1.34178405
77NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.33913809
78TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.33438347
79POU5F1_16153702_ChIP-ChIP_HESCs_Human1.33086515
80SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.31974147
81SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.29291735
82POU3F2_20337985_ChIP-ChIP_501MEL_Human1.28037311
83SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.27535115
84PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.27477600
85LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.26394448
86STAT3_23295773_ChIP-Seq_U87_Human1.25567116
87RNF2_27304074_Chip-Seq_ESCs_Mouse1.24564389
88EZH2_27294783_Chip-Seq_ESCs_Mouse1.24457766
89ELK3_25401928_ChIP-Seq_HUVEC_Human1.23903745
90SMAD4_21799915_ChIP-Seq_A2780_Human1.23738336
91UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.19847072
92UTX_26944678_Chip-Seq_JUKART_Human1.19835365
93TCF4_23295773_ChIP-Seq_U87_Human1.19582707
94E2F7_22180533_ChIP-Seq_HELA_Human1.19004599
95SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.18794251
96IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.18016210
97GATA2_22383799_ChIP-Seq_G1ME_Mouse1.17628238
98MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.17187961
99E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.16808582
100PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.15079673
101BCAT_22108803_ChIP-Seq_LS180_Human1.14844486
102CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.14766606
103REST_21632747_ChIP-Seq_MESCs_Mouse1.14392891
104KDM2B_26808549_Chip-Seq_DND41_Human1.13662311
105KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.13095653
106P68_20966046_ChIP-Seq_HELA_Human1.12096828
107STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.12008700
108CLOCK_20551151_ChIP-Seq_293T_Human1.11485499
109BCL6_27268052_Chip-Seq_Bcells_Human1.11028035
110NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.10896205
111FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.10332214
112BCOR_27268052_Chip-Seq_Bcells_Human1.09541682
113SALL1_21062744_ChIP-ChIP_HESCs_Human1.08552595
114GATA3_21878914_ChIP-Seq_MCF-7_Human1.07777701
115NR3C1_21868756_ChIP-Seq_MCF10A_Human1.07042144
116MYC_18555785_ChIP-Seq_MESCs_Mouse1.06679768
117FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.06312370
118TP53_20018659_ChIP-ChIP_R1E_Mouse1.06282941
119RUNX1_22412390_ChIP-Seq_EML_Mouse1.05003693
120PRDM14_20953172_ChIP-Seq_ESCs_Human1.04964779
121SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.04468435
122FOXM1_23109430_ChIP-Seq_U2OS_Human1.03693477
123RARG_19884340_ChIP-ChIP_MEFs_Mouse1.02844555
124TAF15_26573619_Chip-Seq_HEK293_Human1.02487050
125KDM2B_26808549_Chip-Seq_SUP-B15_Human1.02412620
126ELF1_20517297_ChIP-Seq_JURKAT_Human1.02075457
127DROSHA_22980978_ChIP-Seq_HELA_Human1.02042803
128SPI1_20517297_ChIP-Seq_HL60_Human1.01660525
129KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.00940663
130TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.00712321
131AR_25329375_ChIP-Seq_VCAP_Human1.00246849
132SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.00217407
133POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.00173269
134TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00173269
135TET1_21451524_ChIP-Seq_MESCs_Mouse1.00157912
136SUZ12_27294783_Chip-Seq_ESCs_Mouse1.00144959
137FOXA1_27270436_Chip-Seq_PROSTATE_Human0.99584122
138FOXA1_25329375_ChIP-Seq_VCAP_Human0.99584122
139MAF_26560356_Chip-Seq_TH2_Human0.99245261
140SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.98991601
141GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.98756725
142ATF3_27146783_Chip-Seq_COLON_Human0.98731259
143NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.98471258
144BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.97956651
145NCOR_22424771_ChIP-Seq_293T_Human0.97775873
146GATA2_19941826_ChIP-Seq_K562_Human0.97480258
147MYB_21317192_ChIP-Seq_ERMYB_Mouse0.96906517
148SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.96792622
149LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.96391176
150RACK7_27058665_Chip-Seq_MCF-7_Human0.95558665
151STAT6_20620947_ChIP-Seq_CD4_POS_T_Human0.95042125
152CTCF_21964334_Chip-Seq_Bcells_Human0.94710004
153IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.94578105
154CBP_20019798_ChIP-Seq_JUKART_Human0.94578105
155MYC_18358816_ChIP-ChIP_MESCs_Mouse0.93868300
156RXRA_24833708_ChIP-Seq_LIVER_Mouse0.93682145
157CTCF_21964334_ChIP-Seq_BJAB-B_Human0.93487369
158TP53_22573176_ChIP-Seq_HFKS_Human0.93440944
159KLF5_20875108_ChIP-Seq_MESCs_Mouse0.93092576
160MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.92730017
161FLI1_21867929_ChIP-Seq_TH2_Mouse0.92580526
162NCOR1_26117541_ChIP-Seq_K562_Human0.92529774
163SMAD4_21741376_ChIP-Seq_EPCs_Human0.92163233
164SUZ12_27294783_Chip-Seq_NPCs_Mouse0.91454991
165EST1_17652178_ChIP-ChIP_JURKAT_Human0.91434249
166IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.90591361
167VDR_24763502_ChIP-Seq_THP-1_Human0.90285230
168KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.90213127
169TP53_16413492_ChIP-PET_HCT116_Human0.89804100
170CIITA_25753668_ChIP-Seq_RAJI_Human0.89724964
171LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.89501037
172SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.88577615
173SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.87949968
174PHF8_20622854_ChIP-Seq_HELA_Human0.87791171
175BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.87408498
176PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.87378921
177P53_22127205_ChIP-Seq_FIBROBLAST_Human0.86943695
178TBX20_22080862_ChIP-Seq_HEART_Mouse0.86857307
179TBX20_22328084_ChIP-Seq_HEART_Mouse0.86857307
180SRY_22984422_ChIP-ChIP_TESTIS_Rat0.86444528
181DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.86206316
182WDR5_24793694_ChIP-Seq_LNCAP_Human0.85325353
183RXR_22108803_ChIP-Seq_LS180_Human0.85282705
184ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.84673903
185NFE2_27457419_Chip-Seq_LIVER_Mouse0.84195326
186TOP2B_26459242_ChIP-Seq_MCF-7_Human0.83906525
187CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.82767356
188RUNX2_22187159_ChIP-Seq_PCA_Human0.82578984
189HNF4A_19822575_ChIP-Seq_HepG2_Human0.82543574
190STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.81885913
191SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.80170230
192MYB_26560356_Chip-Seq_TH1_Human0.79440197
193SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.78753421
194CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.78471744
195NOTCH1_21737748_ChIP-Seq_TLL_Human0.78326623
196SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.78209810

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system5.40935661
2MP0005360_urolithiasis5.14841777
3MP0005085_abnormal_gallbladder_physiolo4.29809387
4MP0005365_abnormal_bile_salt4.14702775
5MP0000013_abnormal_adipose_tissue4.01668234
6MP0001485_abnormal_pinna_reflex3.32358005
7MP0009840_abnormal_foam_cell3.29350639
8MP0005646_abnormal_pituitary_gland3.28109895
9MP0003806_abnormal_nucleotide_metabolis3.27389881
10MP0003656_abnormal_erythrocyte_physiolo3.22203506
11MP0002837_dystrophic_cardiac_calcinosis3.15349340
12MP0000516_abnormal_urinary_system3.07266050
13MP0005367_renal/urinary_system_phenotyp3.07266050
14MP0003646_muscle_fatigue3.05321012
15MP0003724_increased_susceptibility_to2.81889204
16MP0008875_abnormal_xenobiotic_pharmacok2.68758039
17MP0005083_abnormal_biliary_tract2.68448453
18MP0000049_abnormal_middle_ear2.58870675
19MP0010329_abnormal_lipoprotein_level2.52940473
20MP0003252_abnormal_bile_duct2.39964297
21MP0009053_abnormal_anal_canal2.35710887
22MP0002653_abnormal_ependyma_morphology2.33854687
23MP0003315_abnormal_perineum_morphology2.33617991
24MP0003191_abnormal_cellular_cholesterol2.28892916
25MP0006292_abnormal_olfactory_placode2.21076669
26MP0001661_extended_life_span2.19441087
27MP0002102_abnormal_ear_morphology2.18538928
28MP0001666_abnormal_nutrient_absorption2.11173734
29MP0003119_abnormal_digestive_system2.09015594
30MP0005332_abnormal_amino_acid2.05760209
31MP0004147_increased_porphyrin_level2.04610162
32MP0006036_abnormal_mitochondrial_physio2.01233253
33MP0004084_abnormal_cardiac_muscle1.99643396
34MP0000609_abnormal_liver_physiology1.94625471
35MP0000537_abnormal_urethra_morphology1.90209445
36MP0002160_abnormal_reproductive_system1.87613181
37MP0005319_abnormal_enzyme/_coenzyme1.85156682
38MP0004130_abnormal_muscle_cell1.84330697
39MP0000631_abnormal_neuroendocrine_gland1.84319541
40MP0002138_abnormal_hepatobiliary_system1.80114588
41MP0005330_cardiomyopathy1.78044428
42MP0003937_abnormal_limbs/digits/tail_de1.77728552
43MP0005670_abnormal_white_adipose1.73437833
44MP0004215_abnormal_myocardial_fiber1.72962559
45MP0003693_abnormal_embryo_hatching1.70515322
46MP0002876_abnormal_thyroid_physiology1.66838983
47MP0008872_abnormal_physiological_respon1.63318305
48MP0003195_calcinosis1.63041083
49MP0000003_abnormal_adipose_tissue1.62756476
50MP0002118_abnormal_lipid_homeostasis1.60917914
51MP0008877_abnormal_DNA_methylation1.56952323
52MP0005174_abnormal_tail_pigmentation1.56406247
53MP0002282_abnormal_trachea_morphology1.50951905
54MP0004510_myositis1.49957265
55MP0005551_abnormal_eye_electrophysiolog1.49917670
56MP0008775_abnormal_heart_ventricle1.47474349
57MP0003705_abnormal_hypodermis_morpholog1.45237479
58MP0004133_heterotaxia1.43579715
59MP0000383_abnormal_hair_follicle1.42556379
60MP0009765_abnormal_xenobiotic_induced1.40581276
61MP0004036_abnormal_muscle_relaxation1.40309746
62MP0005666_abnormal_adipose_tissue1.39388680
63MP0000751_myopathy1.39186484
64MP0005584_abnormal_enzyme/coenzyme_acti1.38345273
65MP0004145_abnormal_muscle_electrophysio1.38077981
66MP0003938_abnormal_ear_development1.37886916
67MP0005076_abnormal_cell_differentiation1.37701900
68MP0009643_abnormal_urine_homeostasis1.36388279
69MP0003186_abnormal_redox_activity1.35489860
70MP0005389_reproductive_system_phenotype1.31674467
71MP0000749_muscle_degeneration1.31106052
72MP0002269_muscular_atrophy1.28406245
73MP0001853_heart_inflammation1.28212996
74MP0004019_abnormal_vitamin_homeostasis1.28002754
75MP0001764_abnormal_homeostasis1.27377237
76MP0003283_abnormal_digestive_organ1.26180126
77MP0004142_abnormal_muscle_tone1.25925256
78MP0002751_abnormal_autonomic_nervous1.24656253
79MP0005451_abnormal_body_composition1.19300886
80MP0009250_abnormal_appendicular_skeleto1.18862150
81MP0005636_abnormal_mineral_homeostasis1.17885395
82MP0004087_abnormal_muscle_fiber1.14637145
83MP0005385_cardiovascular_system_phenoty1.13922912
84MP0001544_abnormal_cardiovascular_syste1.13922912
85MP0000685_abnormal_immune_system1.12439002
86MP0003221_abnormal_cardiomyocyte_apopto1.12208200
87MP0004885_abnormal_endolymph1.12063404
88MP0006072_abnormal_retinal_apoptosis1.11197696
89MP0000598_abnormal_liver_morphology1.10528770
90MP0003868_abnormal_feces_composition1.09998384
91MP0010630_abnormal_cardiac_muscle1.09790769
92MP0003936_abnormal_reproductive_system1.09329824
93MP0002249_abnormal_larynx_morphology1.08221024
94MP0006035_abnormal_mitochondrial_morpho1.08127386
95MP0000372_irregular_coat_pigmentation1.06225057
96MP0008469_abnormal_protein_level1.05492467
97MP0009046_muscle_twitch1.04366136
98MP0005253_abnormal_eye_physiology1.03748942
99MP0003436_decreased_susceptibility_to1.03466502
100MP0001968_abnormal_touch/_nociception1.03053461
101MP0009745_abnormal_behavioral_response1.01817016
102MP0002972_abnormal_cardiac_muscle1.00312211
103MP0003300_gastrointestinal_ulcer0.99700404
104MP0009763_increased_sensitivity_to0.98665867
105MP0005464_abnormal_platelet_physiology0.98209080
106MP0003136_yellow_coat_color0.97196988
107MP0004185_abnormal_adipocyte_glucose0.95967958
108MP0003137_abnormal_impulse_conducting0.95150973
109MP0002078_abnormal_glucose_homeostasis0.95111150
110MP0002938_white_spotting0.93668774
111MP0000750_abnormal_muscle_regeneration0.93368959
112MP0005195_abnormal_posterior_eye0.92995960
113MP0002971_abnormal_brown_adipose0.92608136
114MP0005645_abnormal_hypothalamus_physiol0.92329831
115MP0002928_abnormal_bile_duct0.89232155
116MP0000015_abnormal_ear_pigmentation0.88771896
117MP0005266_abnormal_metabolism0.87776324
118MP0002272_abnormal_nervous_system0.87274914
119MP0001440_abnormal_grooming_behavior0.87000808
120MP0002106_abnormal_muscle_physiology0.86829981
121MP0003890_abnormal_embryonic-extraembry0.86094538
122MP0009642_abnormal_blood_homeostasis0.85762448
123MP0001963_abnormal_hearing_physiology0.85013051
124MP0001502_abnormal_circadian_rhythm0.84217150
125MP0008995_early_reproductive_senescence0.84108775
126MP0008961_abnormal_basal_metabolism0.82385816
127MP0001849_ear_inflammation0.82168997
128MP0000569_abnormal_digit_pigmentation0.82075098
129MP0009764_decreased_sensitivity_to0.80394564
130MP0002277_abnormal_respiratory_mucosa0.79323305
131MP0005334_abnormal_fat_pad0.78317418
132MP0002163_abnormal_gland_morphology0.77789022
133MP0004043_abnormal_pH_regulation0.77150683
134MP0005025_abnormal_response_to0.77069575
135MP0000747_muscle_weakness0.75910509
136MP0005620_abnormal_muscle_contractility0.75394190
137MP0004381_abnormal_hair_follicle0.75073960
138MP0005535_abnormal_body_temperature0.74387422
139MP0004947_skin_inflammation0.73263550
140MP0003303_peritoneal_inflammation0.72185138
141MP0000534_abnormal_ureter_morphology0.72096554
142MP0003567_abnormal_fetal_cardiomyocyte0.71801174
143MP0001986_abnormal_taste_sensitivity0.71597389
144MP0005375_adipose_tissue_phenotype0.70983597
145MP0003879_abnormal_hair_cell0.70353649
146MP0006138_congestive_heart_failure0.70021921
147MP0002095_abnormal_skin_pigmentation0.69381817
148MP0000604_amyloidosis0.69116641
149MP0001919_abnormal_reproductive_system0.68523977
150MP0000343_altered_response_to0.68184138
151MP0003942_abnormal_urinary_system0.67798397
152MP0001845_abnormal_inflammatory_respons0.67468641
153MP0002735_abnormal_chemical_nociception0.66933962
154MP0000026_abnormal_inner_ear0.66755586
155MP0005376_homeostasis/metabolism_phenot0.66128417
156MP0005397_hematopoietic_system_phenotyp0.65971281
157MP0001545_abnormal_hematopoietic_system0.65971281
158MP0001800_abnormal_humoral_immune0.65698365
159MP0002332_abnormal_exercise_endurance0.65489691
160MP0000759_abnormal_skeletal_muscle0.64525803
161MP0002064_seizures0.64408646
162MP0000230_abnormal_systemic_arterial0.64381727
163MP0000689_abnormal_spleen_morphology0.63601220
164MP0002136_abnormal_kidney_physiology0.63344420
165MP0009785_altered_susceptibility_to0.62919444
166MP0002638_abnormal_pupillary_reflex0.62527231
167MP0002970_abnormal_white_adipose0.62406119
168MP0000470_abnormal_stomach_morphology0.62193607
169MP0010368_abnormal_lymphatic_system0.61914377
170MP0001119_abnormal_female_reproductive0.60927246
171MP0000427_abnormal_hair_cycle0.60776847
172MP0001486_abnormal_startle_reflex0.59764578
173MP0002398_abnormal_bone_marrow0.59036642
174MP0002722_abnormal_immune_system0.58984791
175MP0005377_hearing/vestibular/ear_phenot0.58941828
176MP0003878_abnormal_ear_physiology0.58941828
177MP0001835_abnormal_antigen_presentation0.58590074
178MP0010155_abnormal_intestine_physiology0.58229666
179MP0004134_abnormal_chest_morphology0.58206253
180MP0003011_delayed_dark_adaptation0.57655795
181MP0001944_abnormal_pancreas_morphology0.57564491
182MP0002116_abnormal_craniofacial_bone0.57211661
183MP0003828_pulmonary_edema0.56299000
184MP0001145_abnormal_male_reproductive0.55537542
185MP0009115_abnormal_fat_cell0.54364479
186MP0002752_abnormal_somatic_nervous0.53811134
187MP0000653_abnormal_sex_gland0.53486367
188MP0000678_abnormal_parathyroid_gland0.52997892

Predicted human phenotypes

RankGene SetZ-score
1Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)6.67178212
2Short 1st metacarpal (HP:0010034)6.67178212
3Abnormality of the 1st metacarpal (HP:0010009)5.83477285
4Stenosis of the external auditory canal (HP:0000402)4.96099258
5Ectopic kidney (HP:0000086)4.73430862
6Abnormality of aromatic amino acid family metabolism (HP:0004338)4.62520615
7Short phalanx of the thumb (HP:0009660)4.49290064
8Xanthomatosis (HP:0000991)4.42096747
9Ketosis (HP:0001946)4.28049776
10Deep venous thrombosis (HP:0002625)4.23356311
11Intrahepatic cholestasis (HP:0001406)4.22524419
12Hyperammonemia (HP:0001987)4.17279525
13Short hallux (HP:0010109)3.99130906
14Hypoglycemic coma (HP:0001325)3.96205712
15Abnormality of monocarboxylic acid metabolism (HP:0010996)3.90678494
16Carpal bone hypoplasia (HP:0001498)3.82174217
17Abnormality of the renal collecting system (HP:0004742)3.78954073
18Absent thumb (HP:0009777)3.76853622
19Abnormality of the nasal septum (HP:0000419)3.75888976
20Hyperlipoproteinemia (HP:0010980)3.75721255
21Fused cervical vertebrae (HP:0002949)3.72367372
22Aplasia/Hypoplasia of the hallux (HP:0008362)3.67646611
23Ketoacidosis (HP:0001993)3.66035306
24Hypobetalipoproteinemia (HP:0003563)3.63427493
25Prolonged partial thromboplastin time (HP:0003645)3.61356271
26Abnormality of fatty-acid metabolism (HP:0004359)3.59182984
27Myoglobinuria (HP:0002913)3.49056979
28Pendular nystagmus (HP:0012043)3.42538437
29Poikilocytosis (HP:0004447)3.42106159
30Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)3.41882492
31Duplicated collecting system (HP:0000081)3.40941659
32Abnormality of the heme biosynthetic pathway (HP:0010472)3.40754146
33Hyperbilirubinemia (HP:0002904)3.30331075
34Oligomenorrhea (HP:0000876)3.29725134
35Reticulocytosis (HP:0001923)3.29506687
36Hyperglycinuria (HP:0003108)3.27714893
37Hyperglycinemia (HP:0002154)3.25432991
38Chromosomal breakage induced by crosslinking agents (HP:0003221)3.24828003
39Abnormality of serine family amino acid metabolism (HP:0010894)3.23617647
40Abnormality of glycine metabolism (HP:0010895)3.23617647
41Cholelithiasis (HP:0001081)3.23424642
42Joint hemorrhage (HP:0005261)3.23007356
43Abnormality of dicarboxylic acid metabolism (HP:0010995)3.20502783
44Dicarboxylic aciduria (HP:0003215)3.20502783
45Hypolipoproteinemia (HP:0010981)3.19879648
46Hypoalphalipoproteinemia (HP:0003233)3.19673803
47Abnormality of DNA repair (HP:0003254)3.16097225
48Rectal fistula (HP:0100590)3.14501427
49Rectovaginal fistula (HP:0000143)3.14501427
50Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.14219976
51Ventricular tachycardia (HP:0004756)3.12017714
52Sudden death (HP:0001699)3.07151612
53Abnormality of glutamine family amino acid metabolism (HP:0010902)3.00836339
54Abnormality of the common coagulation pathway (HP:0010990)2.99574153
55Abnormality of the proximal phalanges of the hand (HP:0009834)2.98031354
56Aplasia/Hypoplasia involving the musculature (HP:0001460)2.97405298
57Intestinal fistula (HP:0100819)2.94766942
58Synostosis of carpal bones (HP:0005048)2.94444641
59Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.93737652
60Rhabdomyolysis (HP:0003201)2.93722782
61Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.93655156
62Abnormal gallbladder morphology (HP:0012437)2.93434379
63Acanthocytosis (HP:0001927)2.92635235
64Abnormality of sulfur amino acid metabolism (HP:0004339)2.89548241
65Complement deficiency (HP:0004431)2.88590121
66Short thumb (HP:0009778)2.86649883
67* Metabolic acidosis (HP:0001942)2.86470968
68Abnormality of the intrinsic pathway (HP:0010989)2.86038636
69Genetic anticipation (HP:0003743)2.84625867
70Congenital sensorineural hearing impairment (HP:0008527)2.84366746
71Morphological abnormality of the middle ear (HP:0008609)2.81352001
72Nausea (HP:0002018)2.79877457
73Decreased subcutaneous fat (HP:0001002)2.79159142
74Chromsome breakage (HP:0040012)2.73032680
75Pancreatic cysts (HP:0001737)2.71465293
76Epidermoid cyst (HP:0200040)2.68690155
77Horseshoe kidney (HP:0000085)2.66475406
78Absent radius (HP:0003974)2.65936690
79Congenital stationary night blindness (HP:0007642)2.64069229
80Short humerus (HP:0005792)2.62811766
81Absent forearm bone (HP:0003953)2.61538196
82Aplasia involving forearm bones (HP:0009822)2.61538196
83Toxemia of pregnancy (HP:0100603)2.61146304
84Exercise-induced muscle cramps (HP:0003710)2.61043491
85Ragged-red muscle fibers (HP:0003200)2.59660688
86Gout (HP:0001997)2.59566690
87Abnormality of the carotid arteries (HP:0005344)2.59367596
88Abolished electroretinogram (ERG) (HP:0000550)2.59338977
89Generalized aminoaciduria (HP:0002909)2.56755622
90Late onset (HP:0003584)2.56175008
91Asymmetric septal hypertrophy (HP:0001670)2.55991737
92Cerebral edema (HP:0002181)2.55030728
93Exercise-induced myalgia (HP:0003738)2.54462252
94Abnormality of purine metabolism (HP:0004352)2.52344756
95Vaginal fistula (HP:0004320)2.51711566
96Hypochromic microcytic anemia (HP:0004840)2.51418869
97Hepatocellular carcinoma (HP:0001402)2.49263058
98Abnormality of aspartate family amino acid metabolism (HP:0010899)2.49015511
99Abnormality of nucleobase metabolism (HP:0010932)2.48013899
100Pancreatic fibrosis (HP:0100732)2.47124093
101Increased muscle lipid content (HP:0009058)2.44571823
102Hepatic necrosis (HP:0002605)2.44513817
103Aplasia/hypoplasia of the humerus (HP:0006507)2.44171597
104True hermaphroditism (HP:0010459)2.43486185
105Reduced subcutaneous adipose tissue (HP:0003758)2.41189070
106Aplasia/Hypoplasia of the uvula (HP:0010293)2.40289843
107Increased serum ferritin (HP:0003281)2.39563446
108Abnormality of pyrimidine metabolism (HP:0004353)2.39352184
109Abnormality of iron homeostasis (HP:0011031)2.39291889
110Lipoatrophy (HP:0100578)2.35281349
111Right ventricular cardiomyopathy (HP:0011663)2.34769335
112Myocardial infarction (HP:0001658)2.34550464
113Polycythemia (HP:0001901)2.33837193
114Maternal diabetes (HP:0009800)2.33602925
115Chorioretinal atrophy (HP:0000533)2.32931570
116Lethargy (HP:0001254)2.31585488
117Hypercholesterolemia (HP:0003124)2.27917740
118Abnormality of the middle phalanx of the 5th finger (HP:0004219)2.27841853
119Abnormality of reticulocytes (HP:0004312)2.27685846
120Nephronophthisis (HP:0000090)2.27235021
121Hyperinsulinemic hypoglycemia (HP:0000825)2.25993726
122Abnormality of serum amino acid levels (HP:0003112)2.25338778
123Vomiting (HP:0002013)2.25276142
124Abnormality of methionine metabolism (HP:0010901)2.24475050
125Progressive cerebellar ataxia (HP:0002073)2.24091481
126Optic nerve coloboma (HP:0000588)2.23599713
127Abnormality of the middle phalanges of the toes (HP:0010183)2.21202207
128Symphalangism affecting the phalanges of the hand (HP:0009773)2.21132323
129Abnormality of transition element cation homeostasis (HP:0011030)2.20100698
130Abnormality of the gallbladder (HP:0005264)2.19082303
131Vertebral fusion (HP:0002948)2.18696256
132Molar tooth sign on MRI (HP:0002419)2.18485039
133Abnormality of midbrain morphology (HP:0002418)2.18485039
134Atrioventricular block (HP:0001678)2.18131750
135Keratoconus (HP:0000563)2.16360885
136Increased corneal curvature (HP:0100692)2.16360885
137Abnormality of subcutaneous fat tissue (HP:0001001)2.12917800
138Delayed CNS myelination (HP:0002188)2.12833762
139Palpitations (HP:0001962)2.11684482
140Hyporeflexia of lower limbs (HP:0002600)2.10886248
141Menorrhagia (HP:0000132)2.10541867
142Abnormality of complement system (HP:0005339)2.10449230
143Acute necrotizing encephalopathy (HP:0006965)2.09971903
144Fat malabsorption (HP:0002630)2.09453191
145Abnormality of the phalanges of the 5th finger (HP:0004213)2.09372804
146Dilated cardiomyopathy (HP:0001644)2.04558444
147Hypoglycemic seizures (HP:0002173)2.04323561
148Spastic diplegia (HP:0001264)2.04279824
149Impaired platelet aggregation (HP:0003540)2.04127683
150Abnormal platelet function (HP:0011869)2.04127683
151Cholecystitis (HP:0001082)2.04108402
152Abnormal gallbladder physiology (HP:0012438)2.04108402
153Bony spicule pigmentary retinopathy (HP:0007737)2.04008430
154Synostosis involving the elbow (HP:0003938)2.01440722
155Humeroradial synostosis (HP:0003041)2.01440722
156Calf muscle hypertrophy (HP:0008981)2.00523616
157Carpal synostosis (HP:0009702)1.99559108
158Increased purine levels (HP:0004368)1.99481277
159Hyperuricemia (HP:0002149)1.99481277
160Abnormality of the ileum (HP:0001549)1.97913764
161Anal stenosis (HP:0002025)1.97858652
162Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.97507750
163Meckel diverticulum (HP:0002245)1.96899213
164Insulin-resistant diabetes mellitus (HP:0000831)1.96684942
165Abnormality of alanine metabolism (HP:0010916)1.96267640
166Hyperalaninemia (HP:0003348)1.96267640
167Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.96267640
168Subaortic stenosis (HP:0001682)1.96172907
169Abnormality of the left ventricular outflow tract (HP:0011103)1.96172907
170Systemic lupus erythematosus (HP:0002725)1.95450174
171Tented upper lip vermilion (HP:0010804)1.95431872
172Gingival bleeding (HP:0000225)1.94434955
173Increased intramyocellular lipid droplets (HP:0012240)1.92731992
174Neonatal onset (HP:0003623)1.92370481
175Brushfield spots (HP:0001088)1.92242327
176Abnormality of the columella (HP:0009929)1.91548344
177Hypoplasia of the radius (HP:0002984)1.90226105
178Skin nodule (HP:0200036)1.89885088
179Multiple enchondromatosis (HP:0005701)1.88791565
180Reticulocytopenia (HP:0001896)1.88603134
181Long nose (HP:0003189)1.88571485
182Triphalangeal thumb (HP:0001199)1.88564937
183Clubbing of toes (HP:0100760)1.88252103
184Osteomalacia (HP:0002749)1.88084326
185Abnormality of chromosome stability (HP:0003220)1.86318829
186Abnormality of the renal medulla (HP:0100957)1.85583332
187Gaze-evoked nystagmus (HP:0000640)1.85251448
188Hypoplasia of the ulna (HP:0003022)1.84494011
189Concave nail (HP:0001598)1.82977858
190Abnormal mitochondria in muscle tissue (HP:0008316)1.82513584
191Tachypnea (HP:0002789)1.79199346
192Aplasia/Hypoplasia of the patella (HP:0006498)1.78728622
193Progressive macrocephaly (HP:0004481)1.78436017
194Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)1.74958078
195Renal agenesis (HP:0000104)1.74466753
196Abnormality of the parathyroid morphology (HP:0011766)1.73364365
197Type II lissencephaly (HP:0007260)1.71499571

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.87674186
2BCKDK4.74471999
3GRK14.27710375
4TRIB33.70818039
5PKN23.66912506
6ERN13.62409033
7ADRBK23.25942365
8TTN2.87800939
9EEF2K2.85643043
10CDK92.81964601
11MAP3K102.72618931
12BMPR1B2.71090201
13ZAK2.48650023
14MAP4K12.39055971
15FGFR42.22760996
16FLT32.12339229
17NUAK12.11051648
18TYK22.00989379
19TAF11.98975731
20NME21.97626647
21MAP2K11.87255763
22MAP2K31.80794716
23MKNK21.76879408
24WNK31.72418978
25TBK11.70023154
26CDC71.69814210
27MAPK131.69480980
28PDK41.68633772
29PDK31.68633772
30NEK11.65585245
31MAP3K111.64192837
32SIK11.60995274
33MAP4K21.59580786
34WNK41.55257493
35AKT31.53894404
36MAPKAPK31.53633209
37MAPK111.45555272
38PRKD21.42516349
39PLK21.40590740
40GRK61.36987876
41EIF2AK11.36011595
42CDK121.35096730
43STK41.33697363
44LMTK21.32184825
45MAPK121.30981400
46STK391.27871674
47CASK1.23888447
48MAPK151.18067090
49TAOK31.16820124
50VRK11.15331887
51MUSK1.13458961
52CDK41.13107541
53MAP3K71.12968325
54KDR1.12754877
55RPS6KA41.12301876
56ICK1.10074217
57DMPK1.09623334
58TAOK21.06374467
59DYRK31.05372441
60PINK11.02372082
61JAK21.00984234
62ZAP700.98825406
63IRAK30.98527531
64PHKG10.98357273
65PHKG20.98357273
66RPS6KA50.97960840
67ATR0.97879809
68ADRBK10.94684294
69GRK70.93216912
70MAP3K40.93070626
71OXSR10.89325087
72MST1R0.89209974
73TXK0.89018561
74SGK20.86442240
75TLK10.85703540
76INSRR0.85541082
77PTK60.85332919
78JAK10.84771526
79TGFBR20.84268977
80SYK0.83431785
81PRKAA20.83257779
82MAP2K70.82737026
83PRKCG0.79280980
84LRRK20.78992504
85PIM10.78000332
86STK100.77379568
87CSNK1A1L0.76515527
88IKBKE0.75621700
89DYRK20.75536724
90MAP3K50.73800376
91PRKCI0.73583746
92JAK30.73468836
93OBSCN0.73044592
94MAP3K30.72356621
95PRKAA10.71929585
96RIPK10.71420130
97DAPK20.70233786
98PRKCE0.69839016
99GRK50.69460410
100TNIK0.68866379
101BLK0.68679876
102CSNK1G20.68505251
103PDK20.68127966
104CSNK1G10.67364604
105CSNK1G30.67152836
106CAMK40.67064096
107TRPM70.64485157
108SCYL20.64372587
109MTOR0.63515882
110TAOK10.63507302
111ABL20.63481905
112MYLK0.63415912
113CHUK0.62808248
114CDK60.62424899
115EPHA30.62401656
116KIT0.60490255
117CAMK1G0.60067265
118CSNK1A10.58599969
119SGK2230.58557282
120SGK4940.58557282
121NLK0.58506936
122PAK30.58462659
123DAPK30.57525930
124CLK10.56304146
125ACVR1B0.55491532
126IKBKB0.54884198
127RPS6KA10.53542706
128RPS6KA60.53524073
129CAMK1D0.53460835
130IRAK10.52930092
131AURKA0.52835684
132MARK30.52630216
133AKT20.52383206
134PRKCH0.52093418
135NME10.50728679
136PNCK0.50706639
137NEK20.50419623
138SGK30.50196814
139PDK10.50121601
140CHEK20.49542773
141STK240.49151946
142PIK3CG0.48189649
143PRKD10.47834788
144MAP2K60.47662585
145PRKACG0.47388146
146STK110.47303172
147CSNK1D0.47292024
148CAMKK20.47074942
149DYRK1B0.47058204
150HIPK20.46285335
151PKN10.46267504
152PLK40.45156908
153TGFBR10.45062574
154RPS6KL10.44881590
155RPS6KC10.44881590
156MAP3K80.44698034
157BRSK20.43989739
158HCK0.43463268
159VRK20.42353586
160BTK0.42027936
161PRKACA0.41745932
162STK38L0.41681362
163MKNK10.41604934
164MAP3K10.41461291
165CSF1R0.41101212
166MAPK80.40842858
167PIK3CA0.38426939
168MAPKAPK50.37630866
169MAPK40.37620145
170PLK10.37463652
171PRKCQ0.37354452
172MAPK30.37108657
173PDPK10.37044657
174ALK0.36418154
175CSK0.34076152
176BMX0.33085540

Predicted pathways (KEGG)

RankGene SetZ-score
1Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.92369033
2Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005333.67050482
3Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005633.37150529
4Primary bile acid biosynthesis_Homo sapiens_hsa001203.31241936
5Fatty acid degradation_Homo sapiens_hsa000713.26180404
6Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006033.02908540
72-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.95879413
8Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.80743953
9Propanoate metabolism_Homo sapiens_hsa006402.75483370
10Arginine biosynthesis_Homo sapiens_hsa002202.72458020
11Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.72149019
12Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.63371859
13Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.62467836
14Tryptophan metabolism_Homo sapiens_hsa003802.57889923
15Phototransduction_Homo sapiens_hsa047442.44573300
16Fanconi anemia pathway_Homo sapiens_hsa034602.39740300
17Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.35864394
18Fatty acid metabolism_Homo sapiens_hsa012122.19819115
19Nitrogen metabolism_Homo sapiens_hsa009102.14333839
20Homologous recombination_Homo sapiens_hsa034402.12539020
21Nicotine addiction_Homo sapiens_hsa050332.10876922
22Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.09572627
23Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.06861076
24Carbon metabolism_Homo sapiens_hsa012002.03847337
25Selenocompound metabolism_Homo sapiens_hsa004502.01868362
26Linoleic acid metabolism_Homo sapiens_hsa005911.98534937
27Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.98388736
28PPAR signaling pathway_Homo sapiens_hsa033201.95031733
29Pyruvate metabolism_Homo sapiens_hsa006201.93881760
30Complement and coagulation cascades_Homo sapiens_hsa046101.92878226
31Peroxisome_Homo sapiens_hsa041461.91899754
32alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.89348187
33Butanoate metabolism_Homo sapiens_hsa006501.89204948
34Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.87702649
35Pentose and glucuronate interconversions_Homo sapiens_hsa000401.79087180
36beta-Alanine metabolism_Homo sapiens_hsa004101.69296216
37Sulfur relay system_Homo sapiens_hsa041221.65611508
38Biosynthesis of amino acids_Homo sapiens_hsa012301.61797410
39Basal transcription factors_Homo sapiens_hsa030221.46633292
40RNA polymerase_Homo sapiens_hsa030201.39067691
41Folate biosynthesis_Homo sapiens_hsa007901.39060819
42Cysteine and methionine metabolism_Homo sapiens_hsa002701.35010649
43RNA degradation_Homo sapiens_hsa030181.32755164
44Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.31908598
45Lysine degradation_Homo sapiens_hsa003101.30319252
46Drug metabolism - other enzymes_Homo sapiens_hsa009831.29857517
47Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.29384820
48Taste transduction_Homo sapiens_hsa047421.29012893
49Dorso-ventral axis formation_Homo sapiens_hsa043201.28973866
50Staphylococcus aureus infection_Homo sapiens_hsa051501.28730681
51Cyanoamino acid metabolism_Homo sapiens_hsa004601.28083915
52Fat digestion and absorption_Homo sapiens_hsa049751.28030057
53Starch and sucrose metabolism_Homo sapiens_hsa005001.26379723
54Caffeine metabolism_Homo sapiens_hsa002321.26141153
55Basal cell carcinoma_Homo sapiens_hsa052171.25595459
56Ether lipid metabolism_Homo sapiens_hsa005651.24995499
57Morphine addiction_Homo sapiens_hsa050321.24934482
58Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.21265560
59ABC transporters_Homo sapiens_hsa020101.16247748
60Bile secretion_Homo sapiens_hsa049761.15664159
61One carbon pool by folate_Homo sapiens_hsa006701.15620246
62Renin-angiotensin system_Homo sapiens_hsa046141.13543094
63Phenylalanine metabolism_Homo sapiens_hsa003601.13382665
64Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.12230786
65Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.12084718
66Histidine metabolism_Homo sapiens_hsa003401.10068551
67Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.06077300
68Transcriptional misregulation in cancer_Homo sapiens_hsa052021.03177764
69Olfactory transduction_Homo sapiens_hsa047401.01361067
70Pentose phosphate pathway_Homo sapiens_hsa000301.01025184
71Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.00949924
72Arginine and proline metabolism_Homo sapiens_hsa003301.00209486
73Chemical carcinogenesis_Homo sapiens_hsa052040.99986586
74Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.97500230
75Fatty acid elongation_Homo sapiens_hsa000620.93300077
76Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.91688895
77Calcium signaling pathway_Homo sapiens_hsa040200.89423300
78Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.87185099
79Regulation of autophagy_Homo sapiens_hsa041400.85993888
80Sulfur metabolism_Homo sapiens_hsa009200.85145640
81Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.84342998
82Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.79930005
83Retinol metabolism_Homo sapiens_hsa008300.79524270
84Maturity onset diabetes of the young_Homo sapiens_hsa049500.79006590
85Tyrosine metabolism_Homo sapiens_hsa003500.77430561
86Galactose metabolism_Homo sapiens_hsa000520.77163393
87Circadian entrainment_Homo sapiens_hsa047130.76900320
88Melanoma_Homo sapiens_hsa052180.76855202
89Glycerolipid metabolism_Homo sapiens_hsa005610.76194893
90Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.75758730
91Steroid hormone biosynthesis_Homo sapiens_hsa001400.75588168
92Insulin resistance_Homo sapiens_hsa049310.72725326
93TGF-beta signaling pathway_Homo sapiens_hsa043500.71540008
94Adipocytokine signaling pathway_Homo sapiens_hsa049200.70706336
95Insulin secretion_Homo sapiens_hsa049110.68085883
96Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.66197419
97Vitamin B6 metabolism_Homo sapiens_hsa007500.65435951
98Fructose and mannose metabolism_Homo sapiens_hsa000510.63839278
99Alcoholism_Homo sapiens_hsa050340.63736504
100Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.63610780
101Collecting duct acid secretion_Homo sapiens_hsa049660.63420956
102Hedgehog signaling pathway_Homo sapiens_hsa043400.63053635
103Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.62810952
104Glutamatergic synapse_Homo sapiens_hsa047240.61193072
105Huntingtons disease_Homo sapiens_hsa050160.59937072
106Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.56036229
107Ovarian steroidogenesis_Homo sapiens_hsa049130.53278025
108Systemic lupus erythematosus_Homo sapiens_hsa053220.53236433
109Thyroid cancer_Homo sapiens_hsa052160.52813700
110Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.52644474
111Vitamin digestion and absorption_Homo sapiens_hsa049770.52155261
112Asthma_Homo sapiens_hsa053100.51872719
113Axon guidance_Homo sapiens_hsa043600.50707640
114Type II diabetes mellitus_Homo sapiens_hsa049300.50701874
115Jak-STAT signaling pathway_Homo sapiens_hsa046300.48945936
116Salivary secretion_Homo sapiens_hsa049700.48577011
117Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.48550160
118GABAergic synapse_Homo sapiens_hsa047270.47928719
119Metabolic pathways_Homo sapiens_hsa011000.46228910
120Glutathione metabolism_Homo sapiens_hsa004800.45726659
121Serotonergic synapse_Homo sapiens_hsa047260.43978026
122p53 signaling pathway_Homo sapiens_hsa041150.42117206
123AMPK signaling pathway_Homo sapiens_hsa041520.41862733
124cAMP signaling pathway_Homo sapiens_hsa040240.41845001
125Parkinsons disease_Homo sapiens_hsa050120.40937295
126Arachidonic acid metabolism_Homo sapiens_hsa005900.40093753
127Cardiac muscle contraction_Homo sapiens_hsa042600.40040510
128Purine metabolism_Homo sapiens_hsa002300.37789837
129Fatty acid biosynthesis_Homo sapiens_hsa000610.37653088
130Hippo signaling pathway_Homo sapiens_hsa043900.37276831
131Circadian rhythm_Homo sapiens_hsa047100.37236632
132Insulin signaling pathway_Homo sapiens_hsa049100.35760804
133Glucagon signaling pathway_Homo sapiens_hsa049220.34027440
134Cholinergic synapse_Homo sapiens_hsa047250.33162539
135Viral myocarditis_Homo sapiens_hsa054160.32841954
136Renin secretion_Homo sapiens_hsa049240.31447062
137MAPK signaling pathway_Homo sapiens_hsa040100.30591906
138Acute myeloid leukemia_Homo sapiens_hsa052210.28017707
139Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.21232771
140Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.21062327
141Primary immunodeficiency_Homo sapiens_hsa053400.19581664
142Dilated cardiomyopathy_Homo sapiens_hsa054140.18900067
143Oxidative phosphorylation_Homo sapiens_hsa001900.18265461
144Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.17227814
145Glycosaminoglycan degradation_Homo sapiens_hsa005310.17108287
146Central carbon metabolism in cancer_Homo sapiens_hsa052300.15254200
147DNA replication_Homo sapiens_hsa030300.15190460
148Legionellosis_Homo sapiens_hsa051340.12641981
149Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.12476513
150Ribosome_Homo sapiens_hsa030100.10473909
151Antigen processing and presentation_Homo sapiens_hsa046120.10139459
152Longevity regulating pathway - mammal_Homo sapiens_hsa042110.09436815
153Prion diseases_Homo sapiens_hsa050200.07931811
154Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.04345947
155Apoptosis_Homo sapiens_hsa042100.04302063
156Osteoclast differentiation_Homo sapiens_hsa043800.03826869
157Alzheimers disease_Homo sapiens_hsa050100.03649103
158Measles_Homo sapiens_hsa051620.03634195
159Intestinal immune network for IgA production_Homo sapiens_hsa046720.03442921

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