PPARGC1B

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 stimulates the activity of several transcription factors and nuclear receptors, including estrogen receptor alpha, nuclear respiratory factor 1, and glucocorticoid receptor. The encoded protein may be involved in fat oxidation, non-oxidative glucose metabolism, and the regulation of energy expenditure. This protein is downregulated in prediabetic and type 2 diabetes mellitus patients. Certain allelic variations in this gene increase the risk of the development of obesity. Three transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.24378112
2aminoglycoside antibiotic metabolic process (GO:0030647)7.17166721
3maintenance of protein location in nucleus (GO:0051457)6.14919473
4negative regulation of potassium ion transmembrane transport (GO:1901380)6.02075283
5cytidine metabolic process (GO:0046087)5.65948750
6cytidine catabolic process (GO:0006216)5.65948750
7cytidine deamination (GO:0009972)5.65948750
8somite rostral/caudal axis specification (GO:0032525)5.55225993
9regulation of response to osmotic stress (GO:0047484)5.16020853
10negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)5.01386437
11regulation of mammary gland epithelial cell proliferation (GO:0033599)4.74220331
12negative regulation of epidermis development (GO:0045683)4.73770871
13negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)4.68118716
14coenzyme catabolic process (GO:0009109)4.63573907
15regulation of MHC class I biosynthetic process (GO:0045343)4.57773481
16negative regulation of telomerase activity (GO:0051974)4.53554159
17quinone metabolic process (GO:1901661)4.52210275
18negative regulation of cell cycle G2/M phase transition (GO:1902750)4.51920752
19muscle organ morphogenesis (GO:0048644)4.51151748
20pyrimidine ribonucleoside catabolic process (GO:0046133)4.39021507
21mitochondrion distribution (GO:0048311)4.34599231
22histone H4-K12 acetylation (GO:0043983)4.30604246
23interferon-gamma production (GO:0032609)4.27293449
24sarcomere organization (GO:0045214)4.26299991
25rRNA transcription (GO:0009303)4.25469217
26phenol-containing compound catabolic process (GO:0019336)4.22567905
27histone H4-K8 acetylation (GO:0043982)4.20507766
28histone H4-K5 acetylation (GO:0043981)4.20507766
29cardiac myofibril assembly (GO:0055003)4.19374612
30regulation of nuclear cell cycle DNA replication (GO:0033262)4.13525222
31regulation of cilium movement (GO:0003352)4.05555922
32hormone catabolic process (GO:0042447)4.05237881
33response to dietary excess (GO:0002021)3.99756783
34nucleoside transmembrane transport (GO:1901642)3.99730124
35biotin metabolic process (GO:0006768)3.98941561
36calcium-mediated signaling using intracellular calcium source (GO:0035584)3.98501893
37regulation of telomere maintenance via telomerase (GO:0032210)3.96347034
38myofibril assembly (GO:0030239)3.94459570
39protein localization to kinetochore (GO:0034501)3.90736043
40primitive streak formation (GO:0090009)3.77016892
41ventricular cardiac muscle tissue morphogenesis (GO:0055010)3.70797872
42cardiac muscle cell development (GO:0055013)3.66363342
43proline transport (GO:0015824)3.62776431
44cellular modified amino acid catabolic process (GO:0042219)3.60030053
45behavioral response to nicotine (GO:0035095)3.58793935
46notochord development (GO:0030903)3.56844233
47positive regulation of digestive system process (GO:0060456)3.56636544
48negative regulation of DNA-dependent DNA replication (GO:2000104)3.56467800
49vitamin A metabolic process (GO:0006776)3.54846761
50negative regulation of epidermal cell differentiation (GO:0045605)3.54383505
51regulation of cardiac muscle cell apoptotic process (GO:0010665)3.51340689
52icosanoid secretion (GO:0032309)3.48465054
53arachidonic acid secretion (GO:0050482)3.48465054
54negative regulation of systemic arterial blood pressure (GO:0003085)3.47613923
55cell fate commitment involved in formation of primary germ layer (GO:0060795)3.46493478
56retinoic acid receptor signaling pathway (GO:0048384)3.43312145
57cardiovascular system development (GO:0072358)3.42636565
58epoxygenase P450 pathway (GO:0019373)3.41145147
59cardiac cell development (GO:0055006)3.41126944
60cardiac muscle tissue morphogenesis (GO:0055008)3.40776502
61receptor recycling (GO:0001881)3.40292474
62carnitine shuttle (GO:0006853)3.39473999
63rRNA methylation (GO:0031167)3.39050698
64mitochondrion localization (GO:0051646)3.38100735
65rRNA catabolic process (GO:0016075)3.36843918
66phenylpropanoid metabolic process (GO:0009698)3.36735578
67regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.35590531
68protein K11-linked deubiquitination (GO:0035871)3.35089643
69somatic diversification of immune receptors via somatic mutation (GO:0002566)3.30484435
70somatic hypermutation of immunoglobulin genes (GO:0016446)3.30484435
71positive regulation of protein deacetylation (GO:0090312)3.29990931
72positive regulation of histone deacetylation (GO:0031065)3.29840322
73histone H4-K16 acetylation (GO:0043984)3.29284205
74positive regulation of DNA-dependent DNA replication (GO:2000105)3.29279385
75regulation of apoptotic process involved in morphogenesis (GO:1902337)3.29179776
76L-fucose catabolic process (GO:0042355)3.28351067
77fucose catabolic process (GO:0019317)3.28351067
78L-fucose metabolic process (GO:0042354)3.28351067
79tricarboxylic acid cycle (GO:0006099)3.27900884
80regulation of B cell receptor signaling pathway (GO:0050855)3.26398735
81cardiac muscle contraction (GO:0060048)3.23386842
82regulation of DNA endoreduplication (GO:0032875)3.22039966
83skeletal muscle adaptation (GO:0043501)3.21248101
84DNA deamination (GO:0045006)3.20045346
85positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.18674458
86regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.16594788
87interkinetic nuclear migration (GO:0022027)3.15377155
88regulation of striated muscle cell apoptotic process (GO:0010662)3.14104104
89double-strand break repair via homologous recombination (GO:0000724)3.13802449
90branching involved in mammary gland duct morphogenesis (GO:0060444)3.12769764
91recombinational repair (GO:0000725)3.12528970
92DNA methylation involved in gamete generation (GO:0043046)3.09987531
93mitotic sister chromatid segregation (GO:0000070)3.09812825
94maintenance of protein localization in organelle (GO:0072595)3.09506743
95negative regulation of potassium ion transport (GO:0043267)3.08837960
96tachykinin receptor signaling pathway (GO:0007217)3.06153322
97intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)3.05964618
98DNA demethylation (GO:0080111)3.05896737
99heterochromatin organization (GO:0070828)3.04803319
100adrenergic receptor signaling pathway (GO:0071875)3.04519158
101meiotic chromosome segregation (GO:0045132)3.01663374
102adult heart development (GO:0007512)3.01304746
103ventricular trabecula myocardium morphogenesis (GO:0003222)3.00600409
104negative regulation of telomere maintenance (GO:0032205)3.00359648
105ventricular cardiac muscle cell action potential (GO:0086005)2.98314076
106muscle tissue morphogenesis (GO:0060415)2.96529795
107adaptation of signaling pathway (GO:0023058)2.96348698
108DNA replication checkpoint (GO:0000076)2.94567097
109rRNA modification (GO:0000154)2.93047788
110regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.92961767
111fatty acid transmembrane transport (GO:1902001)2.92711926
112negative regulation of peptidyl-serine phosphorylation (GO:0033137)2.92497767
113histone H3-K4 trimethylation (GO:0080182)2.91677145
114pseudouridine synthesis (GO:0001522)2.91346291
115branching involved in labyrinthine layer morphogenesis (GO:0060670)2.89321610
116reciprocal DNA recombination (GO:0035825)2.89161715
117reciprocal meiotic recombination (GO:0007131)2.89161715
118positive regulation of developmental pigmentation (GO:0048087)2.88779907
119cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.88667035
120negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.86316730
121negative regulation of translation, ncRNA-mediated (GO:0040033)2.86316730
122regulation of translation, ncRNA-mediated (GO:0045974)2.86316730
123cellular ketone body metabolic process (GO:0046950)2.85794846
124icosanoid transport (GO:0071715)2.84737579
125fatty acid derivative transport (GO:1901571)2.84737579
126intestinal epithelial cell development (GO:0060576)2.84702005
127RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.82749736
128detection of light stimulus involved in visual perception (GO:0050908)2.76924718
129detection of light stimulus involved in sensory perception (GO:0050962)2.76924718
130DNA methylation or demethylation (GO:0044728)2.74812184
131replication fork processing (GO:0031297)2.74682377
132piRNA metabolic process (GO:0034587)2.72939887
133ncRNA catabolic process (GO:0034661)2.70961818
134peptidyl-lysine methylation (GO:0018022)2.70256512
135snRNA transcription (GO:0009301)2.66996635
136DNA methylation (GO:0006306)2.66783870
137DNA alkylation (GO:0006305)2.66783870
138kynurenine metabolic process (GO:0070189)2.64536031
139ketone body metabolic process (GO:1902224)2.64229045
140auditory receptor cell stereocilium organization (GO:0060088)2.61271121
141methionine biosynthetic process (GO:0009086)2.61188827
142DNA modification (GO:0006304)2.60774631
143monoubiquitinated protein deubiquitination (GO:0035520)2.60534642
144indolalkylamine metabolic process (GO:0006586)2.60516970
145tryptophan catabolic process (GO:0006569)2.59903953
146indole-containing compound catabolic process (GO:0042436)2.59903953
147indolalkylamine catabolic process (GO:0046218)2.59903953
148NAD biosynthetic process (GO:0009435)2.59417395
149maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.59004372
150regulation of hippo signaling (GO:0035330)2.56290898
151mitotic sister chromatid cohesion (GO:0007064)2.55214759
152response to caffeine (GO:0031000)2.52167319
153DNA dealkylation (GO:0035510)2.49724214
154prenylation (GO:0097354)2.49177845
155protein prenylation (GO:0018342)2.49177845
156sister chromatid cohesion (GO:0007062)2.47650121
157protein K48-linked deubiquitination (GO:0071108)2.46361155
158* mitochondrial RNA metabolic process (GO:0000959)2.46358701
159regulation of histone H3-K9 methylation (GO:0051570)2.45963042
160regulation of relaxation of muscle (GO:1901077)2.45202773
161aspartate family amino acid catabolic process (GO:0009068)2.44561384
162carnitine transmembrane transport (GO:1902603)2.44463953
163water-soluble vitamin biosynthetic process (GO:0042364)2.44224016
164protein K63-linked deubiquitination (GO:0070536)2.41611825
165positive regulation of protein homodimerization activity (GO:0090073)2.41483484
166cAMP catabolic process (GO:0006198)2.40826713
167protein K6-linked ubiquitination (GO:0085020)2.39599214
168regulation of telomere maintenance (GO:0032204)2.39181840
169striated muscle hypertrophy (GO:0014897)2.38941866
170ubiquinone biosynthetic process (GO:0006744)2.37778618
171respiratory chain complex IV assembly (GO:0008535)2.36783067
172cellular response to ethanol (GO:0071361)2.35976785
173somatic diversification of immunoglobulins (GO:0016445)2.34822449
174negative regulation of histone methylation (GO:0031061)2.34817548
175DNA double-strand break processing (GO:0000729)2.31888918
176microtubule anchoring (GO:0034453)2.30963380
177histone lysine methylation (GO:0034968)2.29135604
178somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.29040207
179isotype switching (GO:0045190)2.29040207
180somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.29040207
181positive regulation of protein homooligomerization (GO:0032464)2.27350365
182regulation of histone H3-K4 methylation (GO:0051569)2.26396240
183peptidyl-lysine trimethylation (GO:0018023)2.25657879
184regulation of gene silencing by miRNA (GO:0060964)2.24829277
185regulation of gene silencing by RNA (GO:0060966)2.24829277
186doxorubicin metabolic process (GO:0044598)11.2235483
187daunorubicin metabolic process (GO:0044597)11.2235483
188polyketide metabolic process (GO:0030638)11.2235483

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human9.24835421
2KLF5_18264089_ChIP-ChIP_MESCs_Mouse6.32537531
3KLF4_18264089_ChIP-ChIP_MESCs_Mouse6.32537531
4KLF2_18264089_ChIP-ChIP_MESCs_Mouse6.32537531
5RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.13489788
6NOTCH1_17114293_ChIP-ChIP_T-ALL_Human4.04308578
7E2F7_22180533_ChIP-Seq_HELA_Human3.58602924
8SMAD3_22036565_ChIP-Seq_ESCs_Mouse3.24637998
9NACC1_18358816_ChIP-ChIP_MESCs_Mouse3.21136301
10VDR_22108803_ChIP-Seq_LS180_Human3.01252603
11BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.99590886
12TP63_19390658_ChIP-ChIP_HaCaT_Human2.91246111
13MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.87641118
14ZNF274_21170338_ChIP-Seq_K562_Hela2.81178291
15E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.80897535
16GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.73270889
17SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.63347947
18IRF8_22096565_ChIP-ChIP_GC-B_Human2.55312250
19SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.54143658
20PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.47940385
21GATA1_22025678_ChIP-Seq_K562_Human2.46256684
22FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.41730976
23POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.34660827
24TCF3_18692474_ChIP-Seq_MESCs_Mouse2.33227405
25NR0B1_18358816_ChIP-ChIP_MESCs_Mouse2.32014766
26ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.24485927
27FLI1_27457419_Chip-Seq_LIVER_Mouse2.20143939
28EWS_26573619_Chip-Seq_HEK293_Human2.02414331
29TCF3_18692474_ChIP-Seq_MEFs_Mouse2.00407551
30NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.90611245
31NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.90480428
32SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.89531085
33IGF1R_20145208_ChIP-Seq_DFB_Human1.85249026
34SALL1_21062744_ChIP-ChIP_HESCs_Human1.83193681
35NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.78969434
36* CDX2_20551321_ChIP-Seq_CACO-2_Human1.78394977
37PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.73735730
38POU5F1_16518401_ChIP-PET_MESCs_Mouse1.69133915
39ER_23166858_ChIP-Seq_MCF-7_Human1.67704158
40PCGF2_27294783_Chip-Seq_ESCs_Mouse1.66646397
41CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.66134685
42FUS_26573619_Chip-Seq_HEK293_Human1.63626309
43GBX2_23144817_ChIP-Seq_PC3_Human1.61141695
44ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.61103240
45POU3F2_20337985_ChIP-ChIP_501MEL_Human1.60525615
46ZFP57_27257070_Chip-Seq_ESCs_Mouse1.58710473
47HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.57220815
48STAT3_1855785_ChIP-Seq_MESCs_Mouse1.56766017
49* STAT3_23295773_ChIP-Seq_U87_Human1.56089687
50AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.55228203
51E2F1_17053090_ChIP-ChIP_MCF-7_Human1.53564549
52KDM2B_26808549_Chip-Seq_SUP-B15_Human1.52276328
53TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.52136730
54HIF1A_21447827_ChIP-Seq_MCF-7_Human1.51983900
55TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.49891001
56POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.49891001
57TCF4_23295773_ChIP-Seq_U87_Human1.49209775
58PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.48191059
59EST1_17652178_ChIP-ChIP_JURKAT_Human1.47026676
60KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.43689929
61ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.43503363
62IRF1_19129219_ChIP-ChIP_H3396_Human1.40331221
63KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.38724452
64EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.38290726
65* NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.37069767
66NANOG_18692474_ChIP-Seq_MESCs_Mouse1.36233060
67ZFP281_18757296_ChIP-ChIP_E14_Mouse1.34615423
68EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.34264136
69TAF15_26573619_Chip-Seq_HEK293_Human1.32904447
70SCL_19346495_ChIP-Seq_HPC-7_Human1.31853084
71IKZF1_21737484_ChIP-ChIP_HCT116_Human1.31403408
72UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.30630954
73EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.30244815
74SUZ12_27294783_Chip-Seq_NPCs_Mouse1.29586986
75STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.29144655
76* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.28499987
77ZFP281_27345836_Chip-Seq_ESCs_Mouse1.28454245
78CTBP1_25329375_ChIP-Seq_LNCAP_Human1.27397997
79VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.25517762
80P300_19829295_ChIP-Seq_ESCs_Human1.24761101
81CTBP2_25329375_ChIP-Seq_LNCAP_Human1.24712101
82AR_21572438_ChIP-Seq_LNCaP_Human1.24379230
83* POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.24115571
84FOXP3_21729870_ChIP-Seq_TREG_Human1.23146578
85KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.22743718
86MYC_18940864_ChIP-ChIP_HL60_Human1.22336755
87CBP_20019798_ChIP-Seq_JUKART_Human1.22239866
88IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.22239866
89BCAT_22108803_ChIP-Seq_LS180_Human1.22037575
90EZH2_27294783_Chip-Seq_NPCs_Mouse1.21848270
91CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.21170793
92CIITA_25753668_ChIP-Seq_RAJI_Human1.20622228
93NANOG_18692474_ChIP-Seq_MEFs_Mouse1.20409023
94NFE2_27457419_Chip-Seq_LIVER_Mouse1.20325137
95VDR_23849224_ChIP-Seq_CD4+_Human1.19699612
96PCGF2_27294783_Chip-Seq_NPCs_Mouse1.15784825
97KDM2B_26808549_Chip-Seq_K562_Human1.15782295
98PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.15676725
99POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.15125220
100PRDM14_20953172_ChIP-Seq_ESCs_Human1.14504901
101IRF8_21731497_ChIP-ChIP_J774_Mouse1.14459796
102SMC4_20622854_ChIP-Seq_HELA_Human1.14308528
103MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.12401056
104E2F1_21310950_ChIP-Seq_MCF-7_Human1.12315865
105YY1_21170310_ChIP-Seq_MESCs_Mouse1.12282545
106CRX_20693478_ChIP-Seq_RETINA_Mouse1.11604931
107SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.11150428
108TBX3_20139965_ChIP-Seq_ESCs_Mouse1.10251072
109IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.10231929
110ESR2_21235772_ChIP-Seq_MCF-7_Human1.08911966
111TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.08586408
112TP53_22573176_ChIP-Seq_HFKS_Human1.08260841
113TBX3_20139965_ChIP-Seq_MESCs_Mouse1.08094674
114THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.07971027
115KLF5_20875108_ChIP-Seq_MESCs_Mouse1.07483018
116OCT4_18692474_ChIP-Seq_MEFs_Mouse1.06835870
117ETV1_20927104_ChIP-Seq_GIST48_Human1.06120914
118GATA3_26560356_Chip-Seq_TH2_Human1.05971054
119MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.05679936
120IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.03404472
121SMAD4_21799915_ChIP-Seq_A2780_Human1.03286628
122GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.02656723
123NANOG_16518401_ChIP-PET_MESCs_Mouse1.02415458
124ETS1_20019798_ChIP-Seq_JURKAT_Human1.02080269
125TCF4_22108803_ChIP-Seq_LS180_Human1.01863188
126YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.01463049
127SMRT_27268052_Chip-Seq_Bcells_Human1.01059113
128OCT4_21477851_ChIP-Seq_ESCs_Mouse1.00657560
129TP53_22127205_ChIP-Seq_IMR90_Human0.99651171
130SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.98836765
131NFYB_21822215_ChIP-Seq_K562_Human0.98340599
132GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.98297931
133RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.98245373
134* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.98172629
135NOTCH1_21737748_ChIP-Seq_TLL_Human0.97662676
136STAT3_18555785_ChIP-Seq_MESCs_Mouse0.97659762
137SMAD3_21741376_ChIP-Seq_HESCs_Human0.97652436
138EGR1_23403033_ChIP-Seq_LIVER_Mouse0.96832223
139* TCF7_22412390_ChIP-Seq_EML_Mouse0.96826599
140MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.95218072
141RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.95180568
142KDM5A_27292631_Chip-Seq_BREAST_Human0.94746119
143FOXA1_21572438_ChIP-Seq_LNCaP_Human0.94709961
144SOX2_18692474_ChIP-Seq_MESCs_Mouse0.94040701
145PHF8_20622853_ChIP-Seq_HELA_Human0.93993909
146* NR3C1_21868756_ChIP-Seq_MCF10A_Human0.93742399
147SOX2_19829295_ChIP-Seq_ESCs_Human0.93284562
148NANOG_19829295_ChIP-Seq_ESCs_Human0.93284562
149MYB_26560356_Chip-Seq_TH2_Human0.93099232
150* LXR_22292898_ChIP-Seq_THP-1_Human0.92905120
151GATA3_21878914_ChIP-Seq_MCF-7_Human0.92827555
152NFYA_21822215_ChIP-Seq_K562_Human0.91683866
153RBPJ_21746931_ChIP-Seq_IB4_Human0.91331456
154E2F1_18555785_Chip-Seq_ESCs_Mouse0.91206565
155NCOR1_26117541_ChIP-Seq_K562_Human0.91079971
156CDX2_22108803_ChIP-Seq_LS180_Human0.90891889
157NCOR_22424771_ChIP-Seq_293T_Human0.90749043
158CTCF_21964334_Chip-Seq_Bcells_Human0.89685250
159* TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.87974930
160RING1B_27294783_Chip-Seq_NPCs_Mouse0.87270383
161NANOG_18555785_ChIP-Seq_MESCs_Mouse0.87037029
162ESR1_20079471_ChIP-ChIP_T-47D_Human0.86967165
163BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.84225944
164TBX20_22328084_ChIP-Seq_HEART_Mouse0.82767022
165TBX20_22080862_ChIP-Seq_HEART_Mouse0.82767022
166TP63_22573176_ChIP-Seq_HFKS_Human0.82673634
167TP53_20018659_ChIP-ChIP_R1E_Mouse0.82639877
168SPI1_23127762_ChIP-Seq_K562_Human0.82126446
169FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.81941979
170ESET_19884257_ChIP-Seq_ESCs_Mouse0.81833949
171RACK7_27058665_Chip-Seq_MCF-7_Human0.80354871
172* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.79950728
173P68_20966046_ChIP-Seq_HELA_Human0.78816252
174* CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.77625656
175TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.77225716
176NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.76168768
177SOX2_18692474_ChIP-Seq_MEFs_Mouse0.76045716
178BCOR_27268052_Chip-Seq_Bcells_Human0.75160495
179RARB_27405468_Chip-Seq_BRAIN_Mouse0.75105979
180* KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.74994125
181EZH2_22144423_ChIP-Seq_EOC_Human0.73653918
182RNF2_27304074_Chip-Seq_NSC_Mouse0.73553641
183CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.72954835
184HOXB7_26014856_ChIP-Seq_BT474_Human0.71897354
185* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.71394328
186EOMES_21245162_ChIP-Seq_HESCs_Human0.70728031
187ELK4_26923725_Chip-Seq_MESODERM_Mouse0.70696581
188CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.70421432
189SPI1_26923725_Chip-Seq_HPCs_Mouse0.68218658
190E2F4_17652178_ChIP-ChIP_JURKAT_Human0.67932506
191SOX3_22085726_ChIP-Seq_NPCs_Mouse0.67417844
192OCT4_19829295_ChIP-Seq_ESCs_Human0.66762197

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003011_delayed_dark_adaptation5.56607040
2MP0002837_dystrophic_cardiac_calcinosis4.03149715
3MP0003646_muscle_fatigue3.53449745
4MP0004084_abnormal_cardiac_muscle3.36235383
5MP0004264_abnormal_extraembryonic_tissu3.34107099
6MP0002254_reproductive_system_inflammat3.32644197
7MP0004215_abnormal_myocardial_fiber3.21206071
8MP0006292_abnormal_olfactory_placode3.18513924
9MP0000749_muscle_degeneration3.09098710
10MP0000569_abnormal_digit_pigmentation2.82517851
11MP0005394_taste/olfaction_phenotype2.77623609
12MP0005499_abnormal_olfactory_system2.77623609
13MP0005330_cardiomyopathy2.76326148
14MP0003137_abnormal_impulse_conducting2.73161832
15MP0000751_myopathy2.67154190
16* MP0002332_abnormal_exercise_endurance2.66581400
17MP0002127_abnormal_cardiovascular_syste2.63440910
18MP0008877_abnormal_DNA_methylation2.62955722
19MP0004858_abnormal_nervous_system2.57140090
20MP0010094_abnormal_chromosome_stability2.53108909
21MP0005075_abnormal_melanosome_morpholog2.43034033
22MP0008058_abnormal_DNA_repair2.17324355
23MP0008961_abnormal_basal_metabolism2.04482961
24MP0004036_abnormal_muscle_relaxation2.03988681
25MP0000750_abnormal_muscle_regeneration2.03703749
26MP0004087_abnormal_muscle_fiber2.02344466
27* MP0006035_abnormal_mitochondrial_morpho2.00900267
28MP0003122_maternal_imprinting1.98549155
29MP0003183_abnormal_peptide_metabolism1.97305675
30MP0005645_abnormal_hypothalamus_physiol1.96977845
31MP0002972_abnormal_cardiac_muscle1.96500033
32MP0003828_pulmonary_edema1.93194856
33MP0003890_abnormal_embryonic-extraembry1.91009226
34MP0005671_abnormal_response_to1.90569946
35MP0002269_muscular_atrophy1.86910742
36MP0008775_abnormal_heart_ventricle1.78926785
37MP0010630_abnormal_cardiac_muscle1.78566669
38MP0003705_abnormal_hypodermis_morpholog1.75685005
39MP0003950_abnormal_plasma_membrane1.67781427
40MP0005310_abnormal_salivary_gland1.65971161
41MP0001986_abnormal_taste_sensitivity1.63121781
42MP0005620_abnormal_muscle_contractility1.61082444
43MP0000015_abnormal_ear_pigmentation1.59793823
44MP0002138_abnormal_hepatobiliary_system1.59749927
45MP0004043_abnormal_pH_regulation1.58932844
46MP0005257_abnormal_intraocular_pressure1.57824265
47* MP0004085_abnormal_heartbeat1.57768411
48MP0003718_maternal_effect1.56885026
49MP0002396_abnormal_hematopoietic_system1.56207157
50MP0000372_irregular_coat_pigmentation1.53271981
51MP0003693_abnormal_embryo_hatching1.52127511
52MP0000759_abnormal_skeletal_muscle1.50223413
53MP0006138_congestive_heart_failure1.49422161
54MP0004742_abnormal_vestibular_system1.46058997
55MP0008057_abnormal_DNA_replication1.45821981
56MP0002009_preneoplasia1.45039838
57MP0004147_increased_porphyrin_level1.44356671
58* MP0005266_abnormal_metabolism1.43605017
59MP0001544_abnormal_cardiovascular_syste1.41923395
60MP0005385_cardiovascular_system_phenoty1.41923395
61MP0001661_extended_life_span1.35126406
62MP0001800_abnormal_humoral_immune1.34004638
63MP0005670_abnormal_white_adipose1.30538559
64MP0005174_abnormal_tail_pigmentation1.30383493
65MP0006082_CNS_inflammation1.29058948
66MP0005551_abnormal_eye_electrophysiolog1.28790515
67MP0001485_abnormal_pinna_reflex1.28601522
68MP0003111_abnormal_nucleus_morphology1.28551582
69* MP0002106_abnormal_muscle_physiology1.27568569
70* MP0006036_abnormal_mitochondrial_physio1.27318172
71MP0004484_altered_response_of1.25713223
72MP0002088_abnormal_embryonic_growth/wei1.24372469
73MP0004145_abnormal_muscle_electrophysio1.23995330
74MP0005253_abnormal_eye_physiology1.23226640
75MP0001835_abnormal_antigen_presentation1.23187257
76MP0003984_embryonic_growth_retardation1.23079715
77MP0003787_abnormal_imprinting1.22375247
78MP0005380_embryogenesis_phenotype1.21228948
79MP0001672_abnormal_embryogenesis/_devel1.21228948
80MP0003195_calcinosis1.19155867
81MP0000685_abnormal_immune_system1.18411773
82MP0003121_genomic_imprinting1.17885323
83MP0002102_abnormal_ear_morphology1.17719356
84MP0001873_stomach_inflammation1.17350059
85MP0000678_abnormal_parathyroid_gland1.16786676
86MP0001501_abnormal_sleep_pattern1.15586645
87MP0003077_abnormal_cell_cycle1.12800064
88MP0003938_abnormal_ear_development1.11456897
89MP0005387_immune_system_phenotype1.05670043
90MP0001790_abnormal_immune_system1.05670043
91MP0002166_altered_tumor_susceptibility1.02489307
92* MP0005369_muscle_phenotype1.01453960
93MP0000427_abnormal_hair_cycle1.01434514
94MP0006072_abnormal_retinal_apoptosis1.00980960
95MP0003221_abnormal_cardiomyocyte_apopto0.97814237
96MP0002277_abnormal_respiratory_mucosa0.97389615
97MP0002653_abnormal_ependyma_morphology0.97286193
98MP0010307_abnormal_tumor_latency0.97090050
99MP0004957_abnormal_blastocyst_morpholog0.96842711
100* MP0002970_abnormal_white_adipose0.96476718
101MP0004130_abnormal_muscle_cell0.96325457
102MP0003763_abnormal_thymus_physiology0.95749262
103MP0003045_fibrosis0.94914376
104MP0002095_abnormal_skin_pigmentation0.94211508
105MP0003878_abnormal_ear_physiology0.94208891
106MP0005377_hearing/vestibular/ear_phenot0.94208891
107MP0005647_abnormal_sex_gland0.92082529
108MP0002452_abnormal_antigen_presenting0.92074636
109MP0000371_diluted_coat_color0.92052099
110MP0005319_abnormal_enzyme/_coenzyme0.88627121
111MP0004510_myositis0.86793825
112MP0005666_abnormal_adipose_tissue0.84317238
113MP0009046_muscle_twitch0.84266044
114MP0008872_abnormal_physiological_respon0.83965425
115MP0004924_abnormal_behavior0.83791993
116MP0005386_behavior/neurological_phenoty0.83791993
117MP0009745_abnormal_behavioral_response0.83774731
118MP0000343_altered_response_to0.82604292
119MP0000266_abnormal_heart_morphology0.82379505
120MP0000689_abnormal_spleen_morphology0.81398231
121MP0010352_gastrointestinal_tract_polyps0.81388579
122MP0008789_abnormal_olfactory_epithelium0.80811684
123MP0004381_abnormal_hair_follicle0.80270723
124MP0002723_abnormal_immune_serum0.80219713
125MP0005451_abnormal_body_composition0.80080848
126MP0005332_abnormal_amino_acid0.79901969
127MP0002876_abnormal_thyroid_physiology0.79282944
128MP0002160_abnormal_reproductive_system0.79117440
129MP0004885_abnormal_endolymph0.78467298
130MP0002398_abnormal_bone_marrow0.77110065
131MP0003315_abnormal_perineum_morphology0.74758969
132MP0002420_abnormal_adaptive_immunity0.73598350
133MP0001819_abnormal_immune_cell0.72962610
134MP0002693_abnormal_pancreas_physiology0.72950676
135MP0001764_abnormal_homeostasis0.71824055
136MP0005391_vision/eye_phenotype0.69881518
137MP0000631_abnormal_neuroendocrine_gland0.69252543
138* MP0009115_abnormal_fat_cell0.68833711
139MP0002909_abnormal_adrenal_gland0.68746000
140MP0003806_abnormal_nucleotide_metabolis0.68330172
141* MP0000716_abnormal_immune_system0.68303882
142MP0000762_abnormal_tongue_morphology0.67981245
143MP0005085_abnormal_gallbladder_physiolo0.67894833
144MP0000049_abnormal_middle_ear0.67633007
145MP0002638_abnormal_pupillary_reflex0.67472774
146MP0002925_abnormal_cardiovascular_devel0.67419949
147MP0001849_ear_inflammation0.67376885
148MP0000383_abnormal_hair_follicle0.67141211
149MP0004185_abnormal_adipocyte_glucose0.66723476
150MP0005646_abnormal_pituitary_gland0.66608417
151MP0000747_muscle_weakness0.66376287
152MP0004233_abnormal_muscle_weight0.66223830
153MP0002229_neurodegeneration0.65440640
154MP0003567_abnormal_fetal_cardiomyocyte0.65265902
155MP0001324_abnormal_eye_pigmentation0.65229149
156MP0004142_abnormal_muscle_tone0.64097629
157MP0002822_catalepsy0.60044803
158MP0005165_increased_susceptibility_to0.59417495
159MP0002233_abnormal_nose_morphology0.59311982
160MP0002086_abnormal_extraembryonic_tissu0.57853793
161* MP0005376_homeostasis/metabolism_phenot0.57403048
162MP0002752_abnormal_somatic_nervous0.56713237
163MP0002114_abnormal_axial_skeleton0.55747393
164* MP0008770_decreased_survivor_rate0.54506240
165* MP0005452_abnormal_adipose_tissue0.54319130
166MP0005195_abnormal_posterior_eye0.53341886
167MP0001486_abnormal_startle_reflex0.52970588
168MP0002932_abnormal_joint_morphology0.51890136
169MP0010368_abnormal_lymphatic_system0.51259916

Predicted human phenotypes

RankGene SetZ-score
1Bilateral microphthalmos (HP:0007633)6.42533588
2Hypochromic microcytic anemia (HP:0004840)5.46752891
3Multiple enchondromatosis (HP:0005701)5.13959444
4Ventricular tachycardia (HP:0004756)5.02388165
5Testicular atrophy (HP:0000029)4.73298476
6Sudden death (HP:0001699)4.42931645
7Hepatoblastoma (HP:0002884)4.42490563
8Ragged-red muscle fibers (HP:0003200)4.38398838
9Abnormality of the lower motor neuron (HP:0002366)4.28582868
10Atrial fibrillation (HP:0005110)3.85525374
11Rib fusion (HP:0000902)3.77415010
12Difficulty running (HP:0009046)3.74118638
13Increased connective tissue (HP:0009025)3.68710588
14Hyperinsulinemic hypoglycemia (HP:0000825)3.66823955
15Horizontal nystagmus (HP:0000666)3.64220571
16Primary atrial arrhythmia (HP:0001692)3.62368833
17Birth length less than 3rd percentile (HP:0003561)3.52322524
18Supraventricular tachycardia (HP:0004755)3.51495375
19Exercise-induced muscle cramps (HP:0003710)3.42991775
20Supraventricular arrhythmia (HP:0005115)3.41458133
21Hyperventilation (HP:0002883)3.36069295
22Pendular nystagmus (HP:0012043)3.32973149
23Ependymoma (HP:0002888)3.32100051
24Aplasia/Hypoplasia of the fovea (HP:0008060)3.25365077
25Hypoplasia of the fovea (HP:0007750)3.25365077
26Decreased circulating renin level (HP:0003351)3.20284587
27Abnormality of the salivary glands (HP:0010286)3.13724386
28Periauricular skin pits (HP:0100277)3.13675933
29Preauricular pit (HP:0004467)3.13675933
30Gaze-evoked nystagmus (HP:0000640)3.02364271
31Calf muscle hypertrophy (HP:0008981)2.92754731
32Progressive muscle weakness (HP:0003323)2.91135876
33Chromsome breakage (HP:0040012)2.84979218
34Neoplasm of striated muscle (HP:0009728)2.83723391
35Hypochromic anemia (HP:0001931)2.83269237
36Progressive inability to walk (HP:0002505)2.77172653
37Intestinal fistula (HP:0100819)2.76768823
38Anomalous pulmonary venous return (HP:0010772)2.76329524
39Protruding tongue (HP:0010808)2.75728188
40Nephroblastoma (Wilms tumor) (HP:0002667)2.75478695
41Dyschromatopsia (HP:0007641)2.72106542
42EMG: myopathic abnormalities (HP:0003458)2.69313683
43Syncope (HP:0001279)2.67973597
44Rectal fistula (HP:0100590)2.67972881
45Rectovaginal fistula (HP:0000143)2.67972881
46Fair hair (HP:0002286)2.64998498
47Abnormal cartilage morphology (HP:0002763)2.64910411
48Muscle hypertrophy of the lower extremities (HP:0008968)2.61670222
49Progressive external ophthalmoplegia (HP:0000590)2.59043942
50Clumsiness (HP:0002312)2.57879223
51Myoglobinuria (HP:0002913)2.57448155
52Abnormality of the calf musculature (HP:0001430)2.55664654
53Skin nodule (HP:0200036)2.52067953
54Skin pits (HP:0100276)2.51960120
55Embryonal renal neoplasm (HP:0011794)2.50804426
56Abnormality of chromosome stability (HP:0003220)2.50721642
57Pancreatic cysts (HP:0001737)2.50174867
58Ventricular arrhythmia (HP:0004308)2.49631290
59Dysmetric saccades (HP:0000641)2.48645599
60Lipoatrophy (HP:0100578)2.46479357
61Right ventricular cardiomyopathy (HP:0011663)2.45878878
62Abnormality of homocysteine metabolism (HP:0010919)2.45856358
63Homocystinuria (HP:0002156)2.45856358
64Rhabdomyosarcoma (HP:0002859)2.45350100
65Partial duplication of thumb phalanx (HP:0009944)2.44484280
66Progressive cerebellar ataxia (HP:0002073)2.41677523
67Attenuation of retinal blood vessels (HP:0007843)2.41654739
68Mildly elevated creatine phosphokinase (HP:0008180)2.41127373
69Abnormality of the fovea (HP:0000493)2.39228077
70Generalized hypotonia (HP:0001290)2.38077229
71Chronic hepatic failure (HP:0100626)2.37860001
72Neoplasm of the adrenal cortex (HP:0100641)2.37059641
73EMG: neuropathic changes (HP:0003445)2.36653318
74Scotoma (HP:0000575)2.36529972
75Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.34897442
76Abnormality of alanine metabolism (HP:0010916)2.34897442
77Hyperalaninemia (HP:0003348)2.34897442
78Bifid tongue (HP:0010297)2.34247061
79Aplasia/Hypoplasia of the uvula (HP:0010293)2.33689177
80Exercise-induced myalgia (HP:0003738)2.33465327
81Inability to walk (HP:0002540)2.32351684
82Congenital stationary night blindness (HP:0007642)2.32340852
83Subaortic stenosis (HP:0001682)2.32000708
84Abnormality of the left ventricular outflow tract (HP:0011103)2.32000708
85Hyperkalemia (HP:0002153)2.31944211
86Hyperglycinuria (HP:0003108)2.31355000
87Vaginal fistula (HP:0004320)2.30865125
88Patellar aplasia (HP:0006443)2.29145645
89Febrile seizures (HP:0002373)2.28250784
90Fused cervical vertebrae (HP:0002949)2.25855285
91Short humerus (HP:0005792)2.25204250
92Dilated cardiomyopathy (HP:0001644)2.24075684
93Genetic anticipation (HP:0003743)2.23632098
94Chromosomal breakage induced by crosslinking agents (HP:0003221)2.22639284
95Abnormality of the pulmonary veins (HP:0011718)2.21252872
96Abnormal EKG (HP:0003115)2.20692958
97Abnormality of glycolysis (HP:0004366)2.20007413
98Increased serum pyruvate (HP:0003542)2.20007413
99Abnormality of the astrocytes (HP:0100707)2.19261364
100Astrocytoma (HP:0009592)2.19261364
101Abnormality of the pubic bones (HP:0003172)2.18198427
102Aplasia/hypoplasia of the humerus (HP:0006507)2.16636837
103Broad-based gait (HP:0002136)2.13541731
104Amyotrophic lateral sclerosis (HP:0007354)2.12146350
105Abnormality of the renal cortex (HP:0011035)2.12044690
106Aplasia/Hypoplasia of the patella (HP:0006498)2.11810540
107Bundle branch block (HP:0011710)2.11347584
108Clubbing of toes (HP:0100760)2.10831858
109Prolonged QT interval (HP:0001657)2.10303681
110Generalized hypopigmentation of hair (HP:0011358)2.10049890
111Abnormality of chromosome segregation (HP:0002916)2.09701975
112Duplicated collecting system (HP:0000081)2.08511504
113Molar tooth sign on MRI (HP:0002419)2.06136391
114Abnormality of midbrain morphology (HP:0002418)2.06136391
115Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.04857862
116Amblyopia (HP:0000646)2.04675155
117Volvulus (HP:0002580)2.01758367
118Acute myeloid leukemia (HP:0004808)2.00910383
119Increased neuronal autofluorescent lipopigment (HP:0002074)2.00696669
120Reduced antithrombin III activity (HP:0001976)1.99278235
121Partial duplication of the phalanx of hand (HP:0009999)1.98140274
122Muscle fiber splitting (HP:0003555)1.97780314
123Abnormality of the renal collecting system (HP:0004742)1.97759240
124Abnormality of the labia minora (HP:0012880)1.97671291
125Abnormality of the preputium (HP:0100587)1.97280390
126Sensory axonal neuropathy (HP:0003390)1.97020098
127Aplasia/Hypoplasia of the macula (HP:0008059)1.96864096
128Myotonia (HP:0002486)1.96459731
129Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.96187546
130Muscle fibrillation (HP:0010546)1.94376910
131Pancreatic fibrosis (HP:0100732)1.94023202
132Sloping forehead (HP:0000340)1.93433607
133Neoplasm of the heart (HP:0100544)1.93393872
134Polydipsia (HP:0001959)1.92222159
135Abnormal drinking behavior (HP:0030082)1.92222159
136Villous atrophy (HP:0011473)1.91384632
137Abnormality of small intestinal villus morphology (HP:0011472)1.91384632
138Increased serum lactate (HP:0002151)1.90680351
139Abnormal lung lobation (HP:0002101)1.90289514
140Recurrent cutaneous fungal infections (HP:0011370)1.89226043
141Chronic mucocutaneous candidiasis (HP:0002728)1.89226043
142Angiofibromas (HP:0010615)1.88481818
143Adenoma sebaceum (HP:0009720)1.88481818
144Abnormality of renin-angiotensin system (HP:0000847)1.88312577
145Abnormality of the pons (HP:0007361)1.87672951
146Hyporeflexia of lower limbs (HP:0002600)1.87381172
147Resting tremor (HP:0002322)1.86834694
148Abolished electroretinogram (ERG) (HP:0000550)1.86747079
149Methylmalonic aciduria (HP:0012120)1.86733778
1503-Methylglutaconic aciduria (HP:0003535)1.86605226
151Tinnitus (HP:0000360)1.86285947
152Palpitations (HP:0001962)1.85136979
153Stomach cancer (HP:0012126)1.84350412
154Panhypogammaglobulinemia (HP:0003139)1.84059362
155Nephronophthisis (HP:0000090)1.83418995
156Abnormality of B cell number (HP:0010975)1.82659829
157Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.82395168
158Short chin (HP:0000331)1.80540974
159Impulsivity (HP:0100710)1.80494575
160Abnormality of the ileum (HP:0001549)1.77685994
161Limb hypertonia (HP:0002509)1.76664210
162Abnormal pancreas size (HP:0012094)1.75979150
163Type II lissencephaly (HP:0007260)1.75702474
164Hypoplasia of the pons (HP:0012110)1.73512176
165Prominent nose (HP:0000448)1.72921642
166IgG deficiency (HP:0004315)1.72800661
167Increased CSF lactate (HP:0002490)1.71854376
168Abnormality of the vitamin B12 metabolism (HP:0004341)1.71745568
169Abnormality of the fingertips (HP:0001211)1.71588805
170Abnormality of DNA repair (HP:0003254)1.71135669
171Ketosis (HP:0001946)1.69946422
172Ketoacidosis (HP:0001993)1.68629991
173Meckel diverticulum (HP:0002245)1.67478055
174Impaired proprioception (HP:0010831)1.66129862
175Poor eye contact (HP:0000817)1.65583091
176Abnormality of the renal medulla (HP:0100957)1.65224581
177Furrowed tongue (HP:0000221)1.64513701
178Abnormality of vitamin B metabolism (HP:0004340)1.64453384
179Tubular atrophy (HP:0000092)1.64119358
180Partial agenesis of the corpus callosum (HP:0001338)1.63499439
181Absent thumb (HP:0009777)1.62063754
182Abnormal delayed hypersensitivity skin test (HP:0002963)1.62026279
183True hermaphroditism (HP:0010459)1.60581531
184Squamous cell carcinoma (HP:0002860)1.58226993
185Widely spaced teeth (HP:0000687)1.57644893
186Large for gestational age (HP:0001520)1.57511138
187Intellectual disability, progressive (HP:0006887)1.57046025
188Polyuria (HP:0000103)1.56837475
189Ectopic kidney (HP:0000086)1.56640730
190Methylmalonic acidemia (HP:0002912)1.56214922
191IgA deficiency (HP:0002720)1.55536454

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDK127.26587943
2FRK6.58272799
3GRK55.42832073
4ERN14.16421775
5GRK64.11993227
6GRK13.66015504
7ACVR1B3.60504758
8GRK73.22209623
9ADRBK23.03404362
10CSF1R2.72070150
11TGFBR22.51673859
12BMPR1B2.47012151
13MAPK72.38937142
14ZAK2.33621197
15WNK12.14449346
16TYRO32.03577724
17TTK1.93489022
18MKNK21.88258490
19MOS1.87413938
20EEF2K1.83801322
21CAMK1D1.82380406
22MATK1.82176535
23NME11.82155818
24TNIK1.76056392
25STK101.68484603
26CAMK41.66793740
27MARK21.64679696
28PRKG21.62132094
29CAMK1G1.57721500
30NUAK11.56818420
31OXSR11.54469491
32CDC71.48879886
33EIF2AK31.43683674
34OBSCN1.43396247
35MAP2K41.40399215
36TAOK31.38562071
37MAP3K101.33595554
38LMTK21.31263566
39TTN1.20586200
40MAP3K71.19245163
41MAPK121.18662251
42STK381.15904154
43ADRBK11.13674514
44MAPKAPK31.13052731
45MAPK131.11809062
46MYLK1.09242732
47NTRK11.08910827
48MUSK1.06010971
49HIPK21.04438234
50MAP4K11.01037557
51STK391.00508579
52PIK3CG1.00162645
53MKNK10.99941215
54MAPK110.99426372
55TXK0.98023582
56TEC0.97800398
57PDK30.97432523
58PDK40.97432523
59DAPK20.97142542
60MAP3K40.94358748
61TRPM70.93379004
62PHKG10.93109171
63PHKG20.93109171
64WNK40.92409794
65CDK70.89451320
66ATR0.87065722
67FGFR30.86103947
68SYK0.85828316
69AKT30.83724491
70WNK30.82540196
71PLK40.77354079
72STK110.74339275
73KIT0.73869268
74IKBKB0.73271667
75DMPK0.71598563
76TGFBR10.69645070
77AKT20.69617530
78MAP3K140.69158653
79TRIM280.68622446
80SIK20.68110000
81CSK0.67308423
82MAPKAPK50.67301222
83INSRR0.66650129
84ATM0.65412342
85PIM10.64869204
86NLK0.64580535
87CASK0.64258837
88BRD40.63383954
89EIF2AK20.62466693
90SGK20.62392207
91TLK10.62177796
92ALK0.62108079
93MELK0.61971379
94STK38L0.59566878
95STK240.59513751
96MAP2K60.59085443
97PRKAA10.57622509
98NEK20.55077584
99TAF10.54836775
100CDK40.54158550
101PRKCQ0.53902906
102PNCK0.53769735
103FGFR20.52462766
104EPHA20.51701265
105NTRK30.51473514
106CDK30.50189215
107CAMK10.49809148
108BTK0.49794615
109TSSK60.47301840
110MARK30.46818316
111PRKAA20.46121845
112PRKACG0.45185904
113BCKDK0.44998840
114RIPK10.44884677
115MST40.44625361
116CHEK20.44594453
117PAK30.43723689
118LYN0.42495486
119CDC42BPA0.41742869
120PRKACA0.41482574
121IRAK10.40923872
122STK40.40788125
123IGF1R0.40485258
124PAK40.40285379
125PRKD10.40129439
126PRKD20.39826639
127ICK0.39702627
128CDK20.39562056
129IKBKE0.39549526
130TRIB30.39094490
131PRKACB0.39047845
132PDK20.38926837
133SIK10.38851838
134CDK10.38120748
135PRPF4B0.38107872
136MTOR0.37566643
137ITK0.36436140
138PRKCD0.36277839
139PIK3CA0.36065339
140MAP3K130.36052683
141STK30.35089997
142MAP4K20.34762941
143LATS20.34338599
144MAPK40.34137104
145CHUK0.33201241
146MAPK80.33060624
147RIPK40.32143552
148PLK10.31714488
149CAMK2D0.31694450
150MAP3K50.31585673
151RPS6KA30.30480340
152PINK10.30134928
153TAOK10.29799925
154MAP3K90.27933923
155NEK10.27932092
156MAPK100.26149999
157PDK10.25603574
158BLK0.25555272
159TAOK20.25029601
160CHEK10.23020599
161PKN10.22377449
162CSNK1E0.21828756
163PRKCG0.21271874
164PTK20.21264120
165ERBB20.18802656
166PRKCI0.17788061
167EPHA40.16704090
168CAMK2A0.16636593
169GSK3B0.16206207

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006034.39271503
2Vitamin B6 metabolism_Homo sapiens_hsa007504.22919641
3Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.75297568
4Homologous recombination_Homo sapiens_hsa034403.49482680
5Fructose and mannose metabolism_Homo sapiens_hsa000513.35049791
6Cardiac muscle contraction_Homo sapiens_hsa042603.11733420
72-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.90358008
8Non-homologous end-joining_Homo sapiens_hsa034502.68098030
9Nitrogen metabolism_Homo sapiens_hsa009102.67158216
10Phototransduction_Homo sapiens_hsa047442.61643707
11Galactose metabolism_Homo sapiens_hsa000522.59847882
12Dilated cardiomyopathy_Homo sapiens_hsa054142.59224099
13Intestinal immune network for IgA production_Homo sapiens_hsa046722.58823451
14Selenocompound metabolism_Homo sapiens_hsa004502.52036677
15Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.42420901
16One carbon pool by folate_Homo sapiens_hsa006702.30146051
17Fanconi anemia pathway_Homo sapiens_hsa034602.23685017
18Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.12465391
19Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.10333415
20Basal transcription factors_Homo sapiens_hsa030222.00356162
21Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.96687549
22Carbon metabolism_Homo sapiens_hsa012001.95401004
23Primary immunodeficiency_Homo sapiens_hsa053401.76193371
24RNA degradation_Homo sapiens_hsa030181.72919992
25Arachidonic acid metabolism_Homo sapiens_hsa005901.72676704
26Pentose and glucuronate interconversions_Homo sapiens_hsa000401.65126982
27Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.64499570
28Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.64077281
29Ether lipid metabolism_Homo sapiens_hsa005651.62674915
30Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.61098367
31Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.58109747
32Propanoate metabolism_Homo sapiens_hsa006401.57691455
33Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.55821186
34Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.54199931
35RNA polymerase_Homo sapiens_hsa030201.51248389
36Fatty acid degradation_Homo sapiens_hsa000711.45327292
37Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.45254917
38Oxidative phosphorylation_Homo sapiens_hsa001901.38159509
39Linoleic acid metabolism_Homo sapiens_hsa005911.34872179
40Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.32195166
41PPAR signaling pathway_Homo sapiens_hsa033201.28927751
42Asthma_Homo sapiens_hsa053101.26199508
43Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.24647702
44Dorso-ventral axis formation_Homo sapiens_hsa043201.24530580
45Parkinsons disease_Homo sapiens_hsa050121.24252620
46alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.23720898
47DNA replication_Homo sapiens_hsa030301.23619487
48Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.20890528
49Calcium signaling pathway_Homo sapiens_hsa040201.16103367
50Fatty acid metabolism_Homo sapiens_hsa012121.13937619
51Allograft rejection_Homo sapiens_hsa053301.10720898
52Ovarian steroidogenesis_Homo sapiens_hsa049131.09117074
53Tryptophan metabolism_Homo sapiens_hsa003801.08479066
54Taste transduction_Homo sapiens_hsa047421.07318245
55Alzheimers disease_Homo sapiens_hsa050101.07193084
56Nucleotide excision repair_Homo sapiens_hsa034201.03581193
57mTOR signaling pathway_Homo sapiens_hsa041501.03449524
58Circadian rhythm_Homo sapiens_hsa047101.03225587
59Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.02405427
60Graft-versus-host disease_Homo sapiens_hsa053321.01063319
61Glutamatergic synapse_Homo sapiens_hsa047241.00819808
62RNA transport_Homo sapiens_hsa030131.00127848
63Autoimmune thyroid disease_Homo sapiens_hsa053200.99564074
64Base excision repair_Homo sapiens_hsa034100.97644388
65Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.97614053
66GABAergic synapse_Homo sapiens_hsa047270.95039560
67Mismatch repair_Homo sapiens_hsa034300.89866481
68Type I diabetes mellitus_Homo sapiens_hsa049400.89207645
69Starch and sucrose metabolism_Homo sapiens_hsa005000.88153795
70Caffeine metabolism_Homo sapiens_hsa002320.87859755
71Purine metabolism_Homo sapiens_hsa002300.86685721
72Phospholipase D signaling pathway_Homo sapiens_hsa040720.85222309
73Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.84630640
74Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.83907258
75cAMP signaling pathway_Homo sapiens_hsa040240.83497142
76cGMP-PKG signaling pathway_Homo sapiens_hsa040220.82785984
77Pyruvate metabolism_Homo sapiens_hsa006200.82045408
78Inositol phosphate metabolism_Homo sapiens_hsa005620.81573573
79Cysteine and methionine metabolism_Homo sapiens_hsa002700.80688362
80Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.80420570
81Biosynthesis of amino acids_Homo sapiens_hsa012300.80232241
82Adipocytokine signaling pathway_Homo sapiens_hsa049200.79469981
83Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.79406806
84Cyanoamino acid metabolism_Homo sapiens_hsa004600.79185352
85Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.79089580
86AMPK signaling pathway_Homo sapiens_hsa041520.79070240
87Lysine degradation_Homo sapiens_hsa003100.78432789
88Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.78102767
89Maturity onset diabetes of the young_Homo sapiens_hsa049500.77282442
90Glycerolipid metabolism_Homo sapiens_hsa005610.76394937
91mRNA surveillance pathway_Homo sapiens_hsa030150.75079792
92Huntingtons disease_Homo sapiens_hsa050160.74821911
93Vitamin digestion and absorption_Homo sapiens_hsa049770.72353212
94Salivary secretion_Homo sapiens_hsa049700.71181607
95Steroid hormone biosynthesis_Homo sapiens_hsa001400.70979713
96Vascular smooth muscle contraction_Homo sapiens_hsa042700.70785935
97Renin secretion_Homo sapiens_hsa049240.69078218
98Oxytocin signaling pathway_Homo sapiens_hsa049210.68823612
99Thyroid hormone signaling pathway_Homo sapiens_hsa049190.68577296
100Type II diabetes mellitus_Homo sapiens_hsa049300.68558773
101Central carbon metabolism in cancer_Homo sapiens_hsa052300.68481550
102Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.66851095
103Primary bile acid biosynthesis_Homo sapiens_hsa001200.65691382
104Phosphatidylinositol signaling system_Homo sapiens_hsa040700.63606890
105Carbohydrate digestion and absorption_Homo sapiens_hsa049730.62064015
106Serotonergic synapse_Homo sapiens_hsa047260.59394262
107B cell receptor signaling pathway_Homo sapiens_hsa046620.59155784
108Glycerophospholipid metabolism_Homo sapiens_hsa005640.58900245
109NF-kappa B signaling pathway_Homo sapiens_hsa040640.58400667
110Butanoate metabolism_Homo sapiens_hsa006500.58081852
111Choline metabolism in cancer_Homo sapiens_hsa052310.57834801
112Regulation of actin cytoskeleton_Homo sapiens_hsa048100.57620502
113Insulin secretion_Homo sapiens_hsa049110.57018076
114African trypanosomiasis_Homo sapiens_hsa051430.55026483
115Thyroid cancer_Homo sapiens_hsa052160.54511953
116GnRH signaling pathway_Homo sapiens_hsa049120.51590598
117Herpes simplex infection_Homo sapiens_hsa051680.50569280
118Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.49944871
119Bile secretion_Homo sapiens_hsa049760.48642846
120Arginine biosynthesis_Homo sapiens_hsa002200.48164347
121Glucagon signaling pathway_Homo sapiens_hsa049220.48056107
122Pentose phosphate pathway_Homo sapiens_hsa000300.47122160
123Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.47069010
124Nicotine addiction_Homo sapiens_hsa050330.46325246
125Fatty acid biosynthesis_Homo sapiens_hsa000610.46102841
126Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.45892476
127Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.44334502
128Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.43827351
129Long-term potentiation_Homo sapiens_hsa047200.43317233
130Viral myocarditis_Homo sapiens_hsa054160.43216831
131Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.43027427
132Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.42611187
133Pyrimidine metabolism_Homo sapiens_hsa002400.42223991
134Longevity regulating pathway - mammal_Homo sapiens_hsa042110.41623079
135Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.39927763
136Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.39458419
137Morphine addiction_Homo sapiens_hsa050320.39435457
138Cell cycle_Homo sapiens_hsa041100.39028896
139Histidine metabolism_Homo sapiens_hsa003400.38112028
140Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.37982421
141Circadian entrainment_Homo sapiens_hsa047130.37426348
142Rap1 signaling pathway_Homo sapiens_hsa040150.36997031
143Retinol metabolism_Homo sapiens_hsa008300.36725991
144ABC transporters_Homo sapiens_hsa020100.36389793
145Chemical carcinogenesis_Homo sapiens_hsa052040.35848248
146Long-term depression_Homo sapiens_hsa047300.35137308
147beta-Alanine metabolism_Homo sapiens_hsa004100.34354467
148Regulation of autophagy_Homo sapiens_hsa041400.33895148
149Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.33739468
150Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.32264570
151Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.32145589
152Mineral absorption_Homo sapiens_hsa049780.31621758
153Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.31530146
154Other glycan degradation_Homo sapiens_hsa005110.31351974
155Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.31143914
156* Insulin resistance_Homo sapiens_hsa049310.28597019
157Metabolic pathways_Homo sapiens_hsa011000.28262177
158Olfactory transduction_Homo sapiens_hsa047400.27807242
159Acute myeloid leukemia_Homo sapiens_hsa052210.24931200
160Fat digestion and absorption_Homo sapiens_hsa049750.24339582
161RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.24221518

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