BHLHE41

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





Description: This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA deamination (GO:0045006)7.58111685
2GDP-mannose metabolic process (GO:0019673)6.03986573
3respiratory chain complex IV assembly (GO:0008535)5.59219016
4signal peptide processing (GO:0006465)5.47727518
5negative regulation of granulocyte differentiation (GO:0030853)4.97411238
6regulation of type B pancreatic cell apoptotic process (GO:2000674)4.92233559
7telomere maintenance via semi-conservative replication (GO:0032201)4.85705793
8myeloid leukocyte mediated immunity (GO:0002444)4.72459010
9cytochrome complex assembly (GO:0017004)4.65847933
10mannosylation (GO:0097502)4.60349646
11regulation of cellular respiration (GO:0043457)4.42304988
12neutrophil mediated immunity (GO:0002446)4.40712663
13ribosome assembly (GO:0042255)4.38647825
14dolichol-linked oligosaccharide biosynthetic process (GO:0006488)4.31557732
15cellular potassium ion homeostasis (GO:0030007)4.29660840
16sarcoplasmic reticulum calcium ion transport (GO:0070296)4.16807488
17telomere maintenance via recombination (GO:0000722)4.11256858
18regulation of antigen processing and presentation of peptide antigen (GO:0002583)4.06639422
19sodium ion export (GO:0071436)3.99739754
20C-terminal protein lipidation (GO:0006501)3.95228954
21deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.93080048
22killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.92574026
23disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.92574026
24COPI coating of Golgi vesicle (GO:0048205)3.90684762
25Golgi transport vesicle coating (GO:0048200)3.90684762
26DNA strand elongation involved in DNA replication (GO:0006271)3.83805233
27protein maturation by protein folding (GO:0022417)3.79077079
28positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.76186635
29negative regulation of growth of symbiont in host (GO:0044130)3.69167624
30negative regulation of growth of symbiont involved in interaction with host (GO:0044146)3.69167624
31modulation of growth of symbiont involved in interaction with host (GO:0044144)3.69167624
32regulation of growth of symbiont in host (GO:0044126)3.69167624
33DNA strand elongation (GO:0022616)3.67322281
34adenosine receptor signaling pathway (GO:0001973)3.64362860
35synaptic vesicle docking involved in exocytosis (GO:0016081)3.63682022
36membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.52197338
37GPI anchor biosynthetic process (GO:0006506)3.46276573
38C-terminal protein amino acid modification (GO:0018410)3.38577315
39tongue development (GO:0043586)3.37537400
40GMP metabolic process (GO:0046037)3.36758660
41mitotic recombination (GO:0006312)3.31194319
42L-amino acid import (GO:0043092)3.27508493
43peptide hormone processing (GO:0016486)3.23734230
44positive regulation of cellular amine metabolic process (GO:0033240)3.18529413
45postsynaptic membrane organization (GO:0001941)3.17147602
46developmental pigmentation (GO:0048066)3.15751756
47telomere maintenance via telomere lengthening (GO:0010833)3.15229297
48endosome to melanosome transport (GO:0035646)3.14781604
49endosome to pigment granule transport (GO:0043485)3.14781604
50central nervous system myelination (GO:0022010)3.11241603
51axon ensheathment in central nervous system (GO:0032291)3.11241603
52DNA replication initiation (GO:0006270)3.10983105
53potassium ion homeostasis (GO:0055075)3.09170520
54cytoskeletal anchoring at plasma membrane (GO:0007016)3.07671190
55glutamate secretion (GO:0014047)3.01753773
56muscle filament sliding (GO:0030049)2.98609496
57actin-myosin filament sliding (GO:0033275)2.98609496
58synaptic vesicle maturation (GO:0016188)2.95440593
59regulation of oxidative phosphorylation (GO:0002082)2.95354293
60myelin maintenance (GO:0043217)2.94570007
61antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.94510478
62antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.94510478
63protein N-linked glycosylation via asparagine (GO:0018279)2.93741954
64amino acid import (GO:0043090)2.93625369
65macroautophagy (GO:0016236)2.93323653
66positive regulation of protein export from nucleus (GO:0046827)2.92589775
67SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.92586640
68skeletal muscle contraction (GO:0003009)2.92281408
69antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.91638698
70pseudouridine synthesis (GO:0001522)2.91480607
71synaptic vesicle exocytosis (GO:0016079)2.91028763
72protein heterotetramerization (GO:0051290)2.90483123
73reactive oxygen species biosynthetic process (GO:1903409)2.90127461
74regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.88116734
75proteasome assembly (GO:0043248)2.87923874
76cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.87887719
77maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.86565227
78potassium ion import (GO:0010107)2.85698571
79antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.85353888
80peptidyl-asparagine modification (GO:0018196)2.84768642
81killing of cells of other organism (GO:0031640)2.83301607
82disruption of cells of other organism (GO:0044364)2.83301607
83response to interferon-beta (GO:0035456)2.83101987
84respiratory burst (GO:0045730)2.82458747
85cotranslational protein targeting to membrane (GO:0006613)2.82062074
86negative regulation of inclusion body assembly (GO:0090084)2.81474946
87phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)2.80474457
88response to peptidoglycan (GO:0032494)2.79818473
89GPI anchor metabolic process (GO:0006505)2.79466951
90protein targeting to ER (GO:0045047)2.79102199
91neuronal ion channel clustering (GO:0045161)2.77431376
92cellular response to thyroid hormone stimulus (GO:0097067)2.76915297
93regulation of skeletal muscle contraction (GO:0014819)2.75275096
94protein localization to endoplasmic reticulum (GO:0070972)2.73891161
95sequestering of metal ion (GO:0051238)2.73679654
96protein N-linked glycosylation (GO:0006487)2.72975849
97protein retention in ER lumen (GO:0006621)2.72472613
98L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.72449906
99neutrophil activation involved in immune response (GO:0002283)2.72426127
100regulation of pigment cell differentiation (GO:0050932)2.69108075
101mitochondrion degradation (GO:0000422)2.69058308
102regulation of non-canonical Wnt signaling pathway (GO:2000050)2.68907555
103presynaptic membrane assembly (GO:0097105)2.66740504
104pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.66297765
105regulation of mitochondrial translation (GO:0070129)2.65848392
106androgen biosynthetic process (GO:0006702)2.65632646
107negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)2.65517432
108heme biosynthetic process (GO:0006783)2.65327435
109striated muscle contraction (GO:0006941)2.63919581
110regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.63377849
111mitochondrial calcium ion transport (GO:0006851)2.62829733
112tRNA methylation (GO:0030488)2.62708668
113negative regulation of phagocytosis (GO:0050765)2.62020133
114establishment of protein localization to endoplasmic reticulum (GO:0072599)2.60681418
115protein complex biogenesis (GO:0070271)2.59070487
116deoxyribose phosphate biosynthetic process (GO:0046385)2.59028482
1172-deoxyribonucleotide biosynthetic process (GO:0009265)2.59028482
118pteridine-containing compound biosynthetic process (GO:0042559)2.58986687
119DNA replication checkpoint (GO:0000076)2.58931934
120positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.58287997
121nucleoside diphosphate catabolic process (GO:0009134)2.58176641
122regulation of cell communication by electrical coupling (GO:0010649)2.57758572
123facial nerve structural organization (GO:0021612)2.57107484
124barbed-end actin filament capping (GO:0051016)2.56172972
125metallo-sulfur cluster assembly (GO:0031163)2.55912059
126iron-sulfur cluster assembly (GO:0016226)2.55912059
127astrocyte differentiation (GO:0048708)2.55833353
128regulation of granulocyte differentiation (GO:0030852)2.55522986
129relaxation of muscle (GO:0090075)2.55328201
130regulation of nuclear cell cycle DNA replication (GO:0033262)2.54886260
131neuronal action potential propagation (GO:0019227)2.53096329
132anterograde synaptic vesicle transport (GO:0048490)2.52679245
133cellular response to zinc ion (GO:0071294)2.52581096
134regulation of hexokinase activity (GO:1903299)2.52473425
135regulation of glucokinase activity (GO:0033131)2.52473425
136regulation of metalloenzyme activity (GO:0048552)2.50794115
137regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.49946847
138angiotensin maturation (GO:0002003)2.49943714
139cerebellar granule cell differentiation (GO:0021707)2.47384624
140response to stimulus involved in regulation of muscle adaptation (GO:0014874)2.46307020
141cellular sodium ion homeostasis (GO:0006883)2.45970918
142cardiac muscle contraction (GO:0060048)2.42671106
143skeletal muscle adaptation (GO:0043501)2.40123445
144actin-mediated cell contraction (GO:0070252)2.39325160
145regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.36236508
146myofibril assembly (GO:0030239)2.35124353
147skeletal muscle fiber development (GO:0048741)2.32394039
148myotube differentiation (GO:0014902)2.31710774
149regulation of chemokine-mediated signaling pathway (GO:0070099)2.31587547
150negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.29742753
151regulation of beta-amyloid formation (GO:1902003)2.27862561
152regulation of synaptic vesicle exocytosis (GO:2000300)2.27506400
153positive regulation of cellular amide metabolic process (GO:0034250)2.27408522
154regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.25776886
155endothelial cell chemotaxis (GO:0035767)2.24628701
156relaxation of cardiac muscle (GO:0055119)2.24263178
157neuromuscular process controlling balance (GO:0050885)2.22312193
158regulation of inclusion body assembly (GO:0090083)2.20589792
159regulation of relaxation of muscle (GO:1901077)2.20053311
160fructose metabolic process (GO:0006000)2.19554608
161cell communication by electrical coupling (GO:0010644)2.18747676
162cortical actin cytoskeleton organization (GO:0030866)2.16360483
163astrocyte development (GO:0014002)2.15898798
164positive regulation of synapse maturation (GO:0090129)2.15898761
165regulation of clathrin-mediated endocytosis (GO:2000369)2.15505970
166actin filament-based movement (GO:0030048)2.15394843
167regulation of ARF protein signal transduction (GO:0032012)2.14565691
168regulation of neuronal synaptic plasticity (GO:0048168)2.13716044
169neurotransmitter uptake (GO:0001504)2.13714350
170regulation of synapse maturation (GO:0090128)2.13708406
171response to thyroid hormone (GO:0097066)2.13073267
172regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.12140682
173positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)2.11749813
174creatine metabolic process (GO:0006600)2.11594251
175response to muscle activity (GO:0014850)2.10622008
176neurotransmitter secretion (GO:0007269)2.10191610
177regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.09815196
178apoptotic cell clearance (GO:0043277)2.08684268
179glycogen catabolic process (GO:0005980)2.07023747
180regulation of synaptic vesicle transport (GO:1902803)2.06801571
181regulation of calcium ion transmembrane transporter activity (GO:1901019)2.06731504
182regulation of calcium ion transmembrane transport (GO:1903169)2.06731504
183positive regulation of myeloid leukocyte mediated immunity (GO:0002888)2.05706834
184metanephric nephron epithelium development (GO:0072243)2.05185992
185positive regulation of potassium ion transport (GO:0043268)2.04783782
186regulation of short-term neuronal synaptic plasticity (GO:0048172)2.04108565
187cell communication involved in cardiac conduction (GO:0086065)2.04108552
188regulation of early endosome to late endosome transport (GO:2000641)2.03797783
189muscle cell cellular homeostasis (GO:0046716)2.03336910
190positive regulation of astrocyte differentiation (GO:0048711)2.02634046
191activation of protein kinase A activity (GO:0034199)2.01205358
192dicarboxylic acid biosynthetic process (GO:0043650)2.00959692
193monocyte differentiation (GO:0030224)2.00817122
194cell volume homeostasis (GO:0006884)2.00713101
195negative regulation of hydrogen peroxide-induced cell death (GO:1903206)2.00655924
196plasma membrane repair (GO:0001778)1.99984327
197muscle contraction (GO:0006936)1.99931352
198cell-cell junction maintenance (GO:0045217)1.99234603
199axon ensheathment (GO:0008366)1.98694256
200ensheathment of neurons (GO:0007272)1.98694256

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.12470363
2NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.54658023
3ELF1_17652178_ChIP-ChIP_JURKAT_Human3.49216073
4JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.47957903
5GABP_17652178_ChIP-ChIP_JURKAT_Human3.47076759
6KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.39398212
7E2F7_22180533_ChIP-Seq_HELA_Human3.11863043
8GATA1_22025678_ChIP-Seq_K562_Human2.88698160
9HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.78387917
10EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.76689780
11SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.71335017
12EST1_17652178_ChIP-ChIP_JURKAT_Human2.69311601
13FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.60761695
14IRF8_22096565_ChIP-ChIP_GC-B_Human2.58337996
15ESR2_21235772_ChIP-Seq_MCF-7_Human2.55881294
16RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.51394405
17MYC_18555785_ChIP-Seq_MESCs_Mouse2.50209967
18ERG_20887958_ChIP-Seq_HPC-7_Mouse2.45751827
19THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.39909800
20SRF_21415370_ChIP-Seq_HL-1_Mouse2.38918354
21NOTCH1_21737748_ChIP-Seq_TLL_Human2.35211642
22LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.32884464
23HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.32753123
24MYC_18358816_ChIP-ChIP_MESCs_Mouse2.32224040
25TRIM28_21343339_ChIP-Seq_HEK293_Human2.30958182
26FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.29076655
27TAL1_20887958_ChIP-Seq_HPC-7_Mouse2.28170104
28MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.24344589
29ETS1_20019798_ChIP-Seq_JURKAT_Human2.23455786
30SFPI1_20887958_ChIP-Seq_HPC-7_Mouse2.22759878
31CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.19965387
32MYB_21317192_ChIP-Seq_ERMYB_Mouse2.14120106
33FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.11606016
34IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.09353871
35VDR_23849224_ChIP-Seq_CD4+_Human2.06380404
36TFAP2C_20629094_ChIP-Seq_MCF-7_Human2.02904133
37CDX2_19796622_ChIP-Seq_MESCs_Mouse1.99620782
38ESR1_21235772_ChIP-Seq_MCF-7_Human1.99472590
39PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.98711922
40DROSHA_22980978_ChIP-Seq_HELA_Human1.97997219
41TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.96765988
42YY1_21170310_ChIP-Seq_MESCs_Mouse1.93998611
43* MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.90388221
44DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.78897974
45MTF2_20144788_ChIP-Seq_MESCs_Mouse1.77905977
46TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.77757452
47SCL_19346495_ChIP-Seq_HPC-7_Human1.76763911
48GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.76046514
49* SPI1_23547873_ChIP-Seq_NB4_Human1.74843036
50IGF1R_20145208_ChIP-Seq_DFB_Human1.72801517
51ZNF217_24962896_ChIP-Seq_MCF-7_Human1.72595495
52SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.72401490
53HOXB4_20404135_ChIP-ChIP_EML_Mouse1.71642662
54* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.71237172
55MYC_19030024_ChIP-ChIP_MESCs_Mouse1.70238973
56LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.69657008
57RARG_19884340_ChIP-ChIP_MEFs_Mouse1.68801683
58E2F1_18555785_ChIP-Seq_MESCs_Mouse1.68267274
59SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.66825826
60FOXP3_21729870_ChIP-Seq_TREG_Human1.65530293
61ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.60441487
62SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.58692702
63MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.58090243
64SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.56789577
65THAP11_20581084_ChIP-Seq_MESCs_Mouse1.56295330
66RARB_27405468_Chip-Seq_BRAIN_Mouse1.55467359
67BP1_19119308_ChIP-ChIP_Hs578T_Human1.54559651
68* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.53872876
69SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.53767993
70DCP1A_22483619_ChIP-Seq_HELA_Human1.52641436
71SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.52501555
72IRF8_21731497_ChIP-ChIP_J774_Mouse1.52463622
73* KDM2B_26808549_Chip-Seq_K562_Human1.51746665
74* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.50639946
75EP300_21415370_ChIP-Seq_HL-1_Mouse1.50593115
76GABP_19822575_ChIP-Seq_HepG2_Human1.49581127
77CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.48195574
78PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.46743678
79* JARID2_20075857_ChIP-Seq_MESCs_Mouse1.44780059
80* TBX20_22328084_ChIP-Seq_HEART_Mouse1.43262715
81* TBX20_22080862_ChIP-Seq_HEART_Mouse1.43262715
82EZH2_18974828_ChIP-Seq_MESCs_Mouse1.42058508
83RNF2_18974828_ChIP-Seq_MESCs_Mouse1.42058508
84NFIB_24661679_ChIP-Seq_LUNG_Mouse1.40764287
85ELK1_19687146_ChIP-ChIP_HELA_Human1.40242339
86ESR1_20079471_ChIP-ChIP_T-47D_Human1.40015367
87CLOCK_20551151_ChIP-Seq_293T_Human1.38674449
88* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.34253780
89PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.33856930
90NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.33714509
91EZH2_27294783_Chip-Seq_ESCs_Mouse1.31937829
92* RNF2_27304074_Chip-Seq_ESCs_Mouse1.31322717
93EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.30879821
94JARID2_20064375_ChIP-Seq_MESCs_Mouse1.30094851
95CREB1_15753290_ChIP-ChIP_HEK293T_Human1.29874863
96SMAD_19615063_ChIP-ChIP_OVARY_Human1.28688073
97WT1_25993318_ChIP-Seq_PODOCYTE_Human1.27985784
98LXR_22292898_ChIP-Seq_THP-1_Human1.26821597
99SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.25784391
100SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.24172646
101VDR_21846776_ChIP-Seq_THP-1_Human1.23806899
102PU.1_20513432_ChIP-Seq_Bcells_Mouse1.23456951
103CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.22202115
104WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.21913144
105PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.21881024
106NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.21234096
107GATA1_22383799_ChIP-Seq_G1ME_Mouse1.20813682
108STAT4_19710469_ChIP-ChIP_TH1__Mouse1.18837376
109VDR_24763502_ChIP-Seq_THP-1_Human1.18539566
110DNAJC2_21179169_ChIP-ChIP_NT2_Human1.18242634
111SUZ12_27294783_Chip-Seq_ESCs_Mouse1.18053110
112NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.17020364
113CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.16681797
114NELFA_20434984_ChIP-Seq_ESCs_Mouse1.15359649
115CTNNB1_20460455_ChIP-Seq_HCT116_Human1.15299816
116NR3C1_23031785_ChIP-Seq_PC12_Mouse1.14726327
117ZFX_18555785_ChIP-Seq_MESCs_Mouse1.14266597
118PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.14128358
119GATA2_21666600_ChIP-Seq_HMVEC_Human1.14032588
120PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.13919556
121* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.12851100
122GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12738137
123SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.12413850
124BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.10992534
125XRN2_22483619_ChIP-Seq_HELA_Human1.10145865
126VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.09677504
127GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.09558311
128AHR_22903824_ChIP-Seq_MCF-7_Human1.09355508
129SOX9_24532713_ChIP-Seq_HFSC_Mouse1.08989868
130IRF1_19129219_ChIP-ChIP_H3396_Human1.07223777
131* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.06994672
132TTF2_22483619_ChIP-Seq_HELA_Human1.06948335
133SOX2_20726797_ChIP-Seq_SW620_Human1.06898698
134RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.06505508
135SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.06327428
136CIITA_25753668_ChIP-Seq_RAJI_Human1.05983299
137PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.04927103
138SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.04799868
139* PPAR_26484153_Chip-Seq_NCI-H1993_Human1.03767107
140GATA3_21867929_ChIP-Seq_CD8_Mouse1.03613275
141RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.02420020
142FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.01522506
143PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.00278545
144EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.00194109
145EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.00026402
146ELK1_22589737_ChIP-Seq_MCF10A_Human0.99530137
147CJUN_26792858_Chip-Seq_BT549_Human0.99194453
148ERG_21242973_ChIP-ChIP_JURKAT_Human0.98544918
149MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.98238443
150LXR_22158963_ChIP-Seq_LIVER_Mouse0.97695524
151RACK7_27058665_Chip-Seq_MCF-7_Human0.97213260
152IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.97123734
153RUNX1_22412390_ChIP-Seq_EML_Mouse0.94865845
154FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.94515709
155TET1_21490601_ChIP-Seq_MESCs_Mouse0.93921365
156MYCN_18555785_ChIP-Seq_MESCs_Mouse0.93809375
157ETV2_25802403_ChIP-Seq_MESCs_Mouse0.93736887
158EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.93018854
159CTCF_18555785_ChIP-Seq_MESCs_Mouse0.92926705
160FOXA2_19822575_ChIP-Seq_HepG2_Human0.91830088
161SMAD3_21741376_ChIP-Seq_HESCs_Human0.91797071
162EED_16625203_ChIP-ChIP_MESCs_Mouse0.91774398
163NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.91508506
164NRF2_20460467_ChIP-Seq_MEFs_Mouse0.91508506
165IRF8_27001747_Chip-Seq_BMDM_Mouse0.91362818
166TFEB_21752829_ChIP-Seq_HELA_Human0.90977247
167CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.90942738
168* EZH2_27304074_Chip-Seq_ESCs_Mouse0.90919160
169ZFP281_18757296_ChIP-ChIP_E14_Mouse0.90540606
170E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.90151611
171MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.89905714
172ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.89494746
173GBX2_23144817_ChIP-Seq_PC3_Human0.89360938
174SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.88981979
175RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.88726085
176TP63_17297297_ChIP-ChIP_HaCaT_Human0.88463139
177TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.88060731
178ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.88023142
179PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.87791570
180E2F1_21310950_ChIP-Seq_MCF-7_Human0.87401920
181* ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.87064550
182SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.87015671
183ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.86876002
184* P300_27058665_Chip-Seq_ZR-75-30cells_Human0.86445458
185ARNT_22903824_ChIP-Seq_MCF-7_Human0.86306888
186PU_27001747_Chip-Seq_BMDM_Mouse0.85999343
187REST_21632747_ChIP-Seq_MESCs_Mouse0.85772933
188PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.85671858
189FOXO3_23340844_ChIP-Seq_DLD1_Human0.83176472
190YAP1_20516196_ChIP-Seq_MESCs_Mouse0.82344936
191* ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.81862266
192STAT6_21828071_ChIP-Seq_BEAS2B_Human0.81742840
193CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.81283251
194SOX2_27498859_Chip-Seq_STOMACH_Mouse0.80764377
195* MITF_21258399_ChIP-Seq_MELANOMA_Human0.80723250
196* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.80671965

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009379_abnormal_foot_pigmentation4.06922465
2MP0005174_abnormal_tail_pigmentation3.58077388
3MP0001188_hyperpigmentation3.50603642
4MP0000015_abnormal_ear_pigmentation3.47671681
5MP0003724_increased_susceptibility_to3.41043524
6MP0003690_abnormal_glial_cell3.18124257
7MP0003183_abnormal_peptide_metabolism3.08862167
8MP0001986_abnormal_taste_sensitivity3.02818037
9MP0005409_darkened_coat_color2.85302110
10MP0000751_myopathy2.81620533
11MP0000749_muscle_degeneration2.81468257
12MP0004859_abnormal_synaptic_plasticity2.71131470
13MP0006292_abnormal_olfactory_placode2.67784453
14MP0004270_analgesia2.63711100
15MP0005075_abnormal_melanosome_morpholog2.61799826
16MP0003646_muscle_fatigue2.35288534
17MP0009780_abnormal_chondrocyte_physiolo2.35207204
18MP0000920_abnormal_myelination2.26332707
19MP0000678_abnormal_parathyroid_gland2.26193791
20MP0000747_muscle_weakness2.25467254
21MP0001835_abnormal_antigen_presentation2.24882815
22MP0002876_abnormal_thyroid_physiology2.22037302
23MP0002095_abnormal_skin_pigmentation2.21923880
24MP0003329_amyloid_beta_deposits2.20725243
25MP0004036_abnormal_muscle_relaxation2.20403337
26MP0003172_abnormal_lysosome_physiology2.11893000
27MP0008260_abnormal_autophagy2.07583043
28MP0001853_heart_inflammation2.01252016
29MP0002693_abnormal_pancreas_physiology2.00928710
30MP0003303_peritoneal_inflammation1.97068739
31MP0005379_endocrine/exocrine_gland_phen1.94230155
32MP0005423_abnormal_somatic_nervous1.93926555
33MP0000372_irregular_coat_pigmentation1.93800745
34MP0005167_abnormal_blood-brain_barrier1.91879453
35MP0002638_abnormal_pupillary_reflex1.91669343
36MP0003436_decreased_susceptibility_to1.91223817
37MP0010386_abnormal_urinary_bladder1.90703834
38MP0004130_abnormal_muscle_cell1.90496626
39MP0008569_lethality_at_weaning1.90346353
40MP0002148_abnormal_hypersensitivity_rea1.90237775
41MP0009840_abnormal_foam_cell1.86161161
42MP0002064_seizures1.85420269
43MP0000681_abnormal_thyroid_gland1.81798946
44MP0004145_abnormal_muscle_electrophysio1.80739214
45MP0008058_abnormal_DNA_repair1.79158728
46MP0003075_altered_response_to1.77498846
47MP0009785_altered_susceptibility_to1.76831299
48MP0004510_myositis1.73439905
49MP0003693_abnormal_embryo_hatching1.70142984
50MP0004087_abnormal_muscle_fiber1.69345080
51MP0002419_abnormal_innate_immunity1.67428376
52MP0000613_abnormal_salivary_gland1.65778476
53MP0004233_abnormal_muscle_weight1.65389145
54MP0000759_abnormal_skeletal_muscle1.64821390
55MP0000343_altered_response_to1.64633047
56MP0003634_abnormal_glial_cell1.61962682
57MP0005671_abnormal_response_to1.61366965
58MP0001944_abnormal_pancreas_morphology1.61225669
59MP0001501_abnormal_sleep_pattern1.60084882
60MP0002332_abnormal_exercise_endurance1.59915183
61MP0003635_abnormal_synaptic_transmissio1.58946874
62MP0005058_abnormal_lysosome_morphology1.58793794
63MP0005000_abnormal_immune_tolerance1.58320137
64MP0005670_abnormal_white_adipose1.55983738
65MP0005025_abnormal_response_to1.55828386
66MP0002269_muscular_atrophy1.54512013
67MP0003191_abnormal_cellular_cholesterol1.53202573
68MP0002971_abnormal_brown_adipose1.48920506
69MP0002396_abnormal_hematopoietic_system1.47504099
70MP0000604_amyloidosis1.47405235
71MP0004043_abnormal_pH_regulation1.45840250
72MP0003045_fibrosis1.44097885
73MP0003633_abnormal_nervous_system1.40626516
74MP0003136_yellow_coat_color1.40293440
75MP0009046_muscle_twitch1.39446909
76MP0005166_decreased_susceptibility_to1.38805176
77MP0004885_abnormal_endolymph1.37238695
78MP0001486_abnormal_startle_reflex1.35745478
79MP0005220_abnormal_exocrine_pancreas1.34258518
80MP0003866_abnormal_defecation1.32587575
81MP0003763_abnormal_thymus_physiology1.29653619
82MP0005620_abnormal_muscle_contractility1.29353602
83MP0002063_abnormal_learning/memory/cond1.28880764
84MP0009333_abnormal_splenocyte_physiolog1.28284040
85MP0000490_abnormal_crypts_of1.28169313
86MP0003880_abnormal_central_pattern1.27683571
87MP0002998_abnormal_bone_remodeling1.27679718
88MP0002272_abnormal_nervous_system1.27324313
89MP0003879_abnormal_hair_cell1.26991574
90MP0002734_abnormal_mechanical_nocicepti1.26164541
91MP0003300_gastrointestinal_ulcer1.25994251
92MP0009745_abnormal_behavioral_response1.25959352
93MP0002877_abnormal_melanocyte_morpholog1.24464769
94MP0002106_abnormal_muscle_physiology1.24457437
95MP0002751_abnormal_autonomic_nervous1.24336263
96MP0005451_abnormal_body_composition1.24035888
97MP0005375_adipose_tissue_phenotype1.23950910
98MP0005666_abnormal_adipose_tissue1.23749841
99MP0005165_increased_susceptibility_to1.22125992
100MP0005464_abnormal_platelet_physiology1.20816860
101MP0000465_gastrointestinal_hemorrhage1.18991944
102MP0010234_abnormal_vibrissa_follicle1.18360286
103* MP0002420_abnormal_adaptive_immunity1.17539300
104MP0000371_diluted_coat_color1.16882991
105MP0001270_distended_abdomen1.16706784
106MP0002896_abnormal_bone_mineralization1.16241267
107MP0002735_abnormal_chemical_nociception1.16113297
108* MP0002723_abnormal_immune_serum1.16012828
109* MP0001819_abnormal_immune_cell1.15705917
110MP0001186_pigmentation_phenotype1.15312659
111MP0004084_abnormal_cardiac_muscle1.15300628
112MP0002972_abnormal_cardiac_muscle1.14758371
113MP0004484_altered_response_of1.13973537
114MP0000003_abnormal_adipose_tissue1.13788812
115MP0002075_abnormal_coat/hair_pigmentati1.11983370
116* MP0001502_abnormal_circadian_rhythm1.10847475
117MP0003186_abnormal_redox_activity1.09773370
118MP0002572_abnormal_emotion/affect_behav1.09128230
119MP0005171_absent_coat_pigmentation1.07423258
120MP0000013_abnormal_adipose_tissue1.07204750
121MP0006082_CNS_inflammation1.07032942
122MP0003631_nervous_system_phenotype1.05805051
123MP0005369_muscle_phenotype1.04983352
124MP0002090_abnormal_vision1.04729859
125MP0001984_abnormal_olfaction1.03596242
126MP0001765_abnormal_ion_homeostasis1.03147274
127MP0002452_abnormal_antigen_presenting1.02944059
128MP0000733_abnormal_muscle_development1.02622517
129MP0006036_abnormal_mitochondrial_physio1.00427387
130MP0003091_abnormal_cell_migration1.00229445
131MP0006072_abnormal_retinal_apoptosis1.00218131
132MP0003828_pulmonary_edema0.99911039
133MP0002163_abnormal_gland_morphology0.98163257
134MP0001845_abnormal_inflammatory_respons0.97549735
135MP0003950_abnormal_plasma_membrane0.96377569
136MP0002229_neurodegeneration0.96224259
137MP0008469_abnormal_protein_level0.95942643
138MP0003453_abnormal_keratinocyte_physiol0.95832962
139MP0002909_abnormal_adrenal_gland0.95207150
140MP0000685_abnormal_immune_system0.94942639
141* MP0000716_abnormal_immune_system0.94733330
142MP0005636_abnormal_mineral_homeostasis0.92414070
143MP0005023_abnormal_wound_healing0.91757035
144MP0000858_altered_metastatic_potential0.91471422
145MP0001533_abnormal_skeleton_physiology0.91237583
146MP0008874_decreased_physiological_sensi0.90669433
147MP0003632_abnormal_nervous_system0.90522812
148MP0001970_abnormal_pain_threshold0.90489806
149MP0005330_cardiomyopathy0.90368449
150MP0001800_abnormal_humoral_immune0.89102344
151MP0005645_abnormal_hypothalamus_physiol0.88766483
152MP0000358_abnormal_cell_content/0.87875448
153MP0004142_abnormal_muscle_tone0.87822299
154MP0001440_abnormal_grooming_behavior0.87014852
155MP0000750_abnormal_muscle_regeneration0.86526195
156* MP0002398_abnormal_bone_marrow0.85479062
157MP0004215_abnormal_myocardial_fiber0.85320146
158MP0002160_abnormal_reproductive_system0.84890839
159MP0003283_abnormal_digestive_organ0.84779693
160MP0003279_aneurysm0.84610260
161MP0003195_calcinosis0.84235435
162MP0006276_abnormal_autonomic_nervous0.83582154
163MP0005595_abnormal_vascular_smooth0.82794455
164MP0001790_abnormal_immune_system0.82651815
165MP0005387_immune_system_phenotype0.82651815
166MP0002078_abnormal_glucose_homeostasis0.82517454
167MP0001764_abnormal_homeostasis0.82322843
168MP0004381_abnormal_hair_follicle0.82222831
169MP0002933_joint_inflammation0.82057600
170MP0005535_abnormal_body_temperature0.81535787
171MP0002177_abnormal_outer_ear0.80735071
172* MP0002429_abnormal_blood_cell0.77789398
173MP0005257_abnormal_intraocular_pressure0.75684494
174MP0000689_abnormal_spleen_morphology0.75499835
175MP0010094_abnormal_chromosome_stability0.74992930
176MP0002928_abnormal_bile_duct0.74793744
177MP0006138_congestive_heart_failure0.73960789
178MP0002938_white_spotting0.73561776
179MP0008007_abnormal_cellular_replicative0.72874626
180MP0002066_abnormal_motor_capabilities/c0.72479668
181MP0005164_abnormal_response_to0.71569421
182MP0000631_abnormal_neuroendocrine_gland0.70694784
183MP0004147_increased_porphyrin_level0.66411469

Predicted human phenotypes

RankGene SetZ-score
1Reduced antithrombin III activity (HP:0001976)7.99651527
2Type I transferrin isoform profile (HP:0003642)7.75141152
3Abnormal protein N-linked glycosylation (HP:0012347)6.06530222
4Abnormal protein glycosylation (HP:0012346)6.06530222
5Abnormal glycosylation (HP:0012345)6.06530222
6Abnormal isoelectric focusing of serum transferrin (HP:0003160)6.06530222
7Muscle fiber inclusion bodies (HP:0100299)5.43236709
8Nemaline bodies (HP:0003798)5.41806871
9Exercise-induced myalgia (HP:0003738)5.19409868
10Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)5.18382988
11Hypothermia (HP:0002045)4.43548898
12Type 1 muscle fiber predominance (HP:0003803)4.32268894
13Neurofibrillary tangles (HP:0002185)3.95704179
14Exercise-induced muscle cramps (HP:0003710)3.92747273
15Hyporeflexia of lower limbs (HP:0002600)3.81323908
16Muscle fiber splitting (HP:0003555)3.74419725
17EMG: myopathic abnormalities (HP:0003458)3.67298643
18Glomerulonephritis (HP:0000099)3.62721275
19Systemic lupus erythematosus (HP:0002725)3.45000541
20Difficulty running (HP:0009046)3.41830633
21Centrally nucleated skeletal muscle fibers (HP:0003687)3.40977690
22Absent rod-and cone-mediated responses on ERG (HP:0007688)3.40280800
23Hepatic necrosis (HP:0002605)3.31520830
24Abnormality of glycosphingolipid metabolism (HP:0004343)3.29006521
25Abnormality of glycolipid metabolism (HP:0010969)3.29006521
26Abnormality of liposaccharide metabolism (HP:0010968)3.29006521
27Late onset (HP:0003584)3.23300713
28Cerebral inclusion bodies (HP:0100314)3.15059932
29Distal lower limb muscle weakness (HP:0009053)3.13469904
30Thyroid-stimulating hormone excess (HP:0002925)3.11710275
31Annular pancreas (HP:0001734)3.09033831
32Mutism (HP:0002300)3.08754031
33Ocular albinism (HP:0001107)3.08168740
34Myopathic facies (HP:0002058)3.06443889
35Hepatocellular necrosis (HP:0001404)3.05563319
36Bundle branch block (HP:0011710)3.05162046
37Thoracic kyphosis (HP:0002942)2.94059847
38Round ear (HP:0100830)2.93895347
39Axonal loss (HP:0003447)2.92726963
40Sex reversal (HP:0012245)2.89676543
41Abnormal sex determination (HP:0012244)2.89676543
42Myoglobinuria (HP:0002913)2.89071753
43Abnormality of magnesium homeostasis (HP:0004921)2.87687430
44Obstructive sleep apnea (HP:0002870)2.86352116
45Severe visual impairment (HP:0001141)2.84417806
46Prolonged partial thromboplastin time (HP:0003645)2.83474754
47Cortical visual impairment (HP:0100704)2.83258261
48Abnormality of skeletal muscle fiber size (HP:0012084)2.83023592
49Asymmetric septal hypertrophy (HP:0001670)2.80788305
50Exertional dyspnea (HP:0002875)2.79381376
51Spinal canal stenosis (HP:0003416)2.78212155
52Increased connective tissue (HP:0009025)2.77659414
53Supranuclear gaze palsy (HP:0000605)2.77155410
54Action tremor (HP:0002345)2.76084792
55Rhabdomyolysis (HP:0003201)2.75612052
56Hypoglycemic coma (HP:0001325)2.75247330
57Hyperkalemia (HP:0002153)2.74973747
58Aplastic anemia (HP:0001915)2.72869986
59Increased variability in muscle fiber diameter (HP:0003557)2.72051631
60Generalized aminoaciduria (HP:0002909)2.69462146
61Distal arthrogryposis (HP:0005684)2.68047543
62Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.66676582
63Frequent falls (HP:0002359)2.66552659
64Abnormal rod and cone electroretinograms (HP:0008323)2.65206740
65Increased hepatocellular lipid droplets (HP:0006565)2.65128103
66Neck muscle weakness (HP:0000467)2.61395684
67Vacuolated lymphocytes (HP:0001922)2.61182413
68Hypoglycemic seizures (HP:0002173)2.60836217
69Iris hypopigmentation (HP:0007730)2.59964856
70Elevated erythrocyte sedimentation rate (HP:0003565)2.58078740
71Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.57946305
72Ankle clonus (HP:0011448)2.57773665
73Complement deficiency (HP:0004431)2.57007446
74Abnormal number of erythroid precursors (HP:0012131)2.56034408
75Neuronal loss in central nervous system (HP:0002529)2.55145675
76Renal Fanconi syndrome (HP:0001994)2.53593022
77Thrombocytosis (HP:0001894)2.53044150
78Muscle hypertrophy of the lower extremities (HP:0008968)2.49926343
79Symptomatic seizures (HP:0011145)2.48394502
80Lipid accumulation in hepatocytes (HP:0006561)2.47559070
81Split foot (HP:0001839)2.46896535
82Diplopia (HP:0000651)2.45418771
83Abnormality of binocular vision (HP:0011514)2.45418771
84Rapidly progressive (HP:0003678)2.42396858
85Abnormality of the axillary hair (HP:0100134)2.40967155
86Abnormality of secondary sexual hair (HP:0009888)2.40967155
87Nuclear cataract (HP:0100018)2.35232517
88Microvesicular hepatic steatosis (HP:0001414)2.31254724
89Abnormality of the left ventricular outflow tract (HP:0011103)2.29199590
90Subaortic stenosis (HP:0001682)2.29199590
91Hyperinsulinemic hypoglycemia (HP:0000825)2.27298437
92Increased intramyocellular lipid droplets (HP:0012240)2.23275238
93Rigidity (HP:0002063)2.22078578
94Attenuation of retinal blood vessels (HP:0007843)2.21132140
95Cerebral aneurysm (HP:0004944)2.20622927
96Abnormality of cells of the erythroid lineage (HP:0012130)2.20608466
97Foot dorsiflexor weakness (HP:0009027)2.19586274
98Recurrent abscess formation (HP:0002722)2.14792159
99Abnormality of the thoracic spine (HP:0100711)2.14239191
100Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.13801106
101Decreased activity of mitochondrial respiratory chain (HP:0008972)2.13801106
102Abnormality of calcium-phosphate metabolism (HP:0100530)2.13731997
103Calf muscle hypertrophy (HP:0008981)2.13636999
104Dysostosis multiplex (HP:0000943)2.13151537
105Lower limb hyperreflexia (HP:0002395)2.11969239
106Muscle stiffness (HP:0003552)2.11958656
107Abnormal atrioventricular conduction (HP:0005150)2.11720304
108True hermaphroditism (HP:0010459)2.11159628
109Focal motor seizures (HP:0011153)2.10446318
110Distal lower limb amyotrophy (HP:0008944)2.09931293
111Heart block (HP:0012722)2.08974446
112Bulbar palsy (HP:0001283)2.08738525
113Increased cerebral lipofuscin (HP:0011813)2.08736603
114Mitochondrial inheritance (HP:0001427)2.06535191
115Chronic obstructive pulmonary disease (HP:0006510)2.05406228
116Obstructive lung disease (HP:0006536)2.05406228
117Decreased circulating renin level (HP:0003351)2.05329605
118Abnormality of the foot musculature (HP:0001436)2.05121543
119Hyperphosphatemia (HP:0002905)2.04564890
120Generalized tonic-clonic seizures (HP:0002069)2.03931328
121Ulnar deviation of the wrist (HP:0003049)2.03549888
122EMG: neuropathic changes (HP:0003445)2.03448303
123Hypoplasia of the fovea (HP:0007750)2.03151690
124Aplasia/Hypoplasia of the fovea (HP:0008060)2.03151690
125IgM deficiency (HP:0002850)2.02632865
126Myositis (HP:0100614)2.02208854
127Broad face (HP:0000283)2.00814069
128Increased muscle lipid content (HP:0009058)2.00636298
129Abnormality of the calf musculature (HP:0001430)2.00506931
130Sudden death (HP:0001699)1.99750780
131Arterial tortuosity (HP:0005116)1.99473615
132Mildly elevated creatine phosphokinase (HP:0008180)1.99289323
133Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.99034488
134Atonic seizures (HP:0010819)1.99009572
135Aplasia/Hypoplasia of the sacrum (HP:0008517)1.98630217
136Febrile seizures (HP:0002373)1.98170075
137Pancreatic fibrosis (HP:0100732)1.98005175
138Postural instability (HP:0002172)1.97759054
139Lower limb amyotrophy (HP:0007210)1.97531686
140Abnormality of the prostate (HP:0008775)1.95712575
141Abnormality of T cell physiology (HP:0011840)1.94150000
142Ventricular fibrillation (HP:0001663)1.90675537
143Progressive muscle weakness (HP:0003323)1.89233637
144Intention tremor (HP:0002080)1.88648466
145Abnormality of the fovea (HP:0000493)1.88190112
146Abnormality of the columella (HP:0009929)1.87616992
147Abnormality of complement system (HP:0005339)1.85734431
148Meningitis (HP:0001287)1.85553440
149Papilledema (HP:0001085)1.85452367
150Scanning speech (HP:0002168)1.85129128
151Pancreatic cysts (HP:0001737)1.84745343
152Increased CSF lactate (HP:0002490)1.84404317
153Microretrognathia (HP:0000308)1.84293032
154Recurrent bacterial skin infections (HP:0005406)1.83836460
155Abnormality of the periventricular white matter (HP:0002518)1.83349283
156Nephritis (HP:0000123)1.83307160
157Ventricular arrhythmia (HP:0004308)1.82901326
158Absence seizures (HP:0002121)1.82407181
159Pulmonary fibrosis (HP:0002206)1.82405903
160Myokymia (HP:0002411)1.80876175
161Abnormality of renal resorption (HP:0011038)1.79335594
162Progressive neurologic deterioration (HP:0002344)1.78578108
163Insulin-resistant diabetes mellitus (HP:0000831)1.77177765
164Dysmetria (HP:0001310)1.77167267
165Dementia (HP:0000726)1.75772767
166Truncal ataxia (HP:0002078)1.74144153
167Vascular tortuosity (HP:0004948)1.74142386
168Capillary hemangiomas (HP:0005306)1.74008995
169Depression (HP:0000716)1.73007430
170Apathy (HP:0000741)1.71476057
171Mucopolysacchariduria (HP:0008155)1.71437888
172Urinary glycosaminoglycan excretion (HP:0003541)1.71437888
173Focal seizures (HP:0007359)1.70828316
174Petechiae (HP:0000967)1.70009033
175Tetraplegia (HP:0002445)1.69959885
176Atrioventricular block (HP:0001678)1.69869251
177Gowers sign (HP:0003391)1.69858798
178Spinal rigidity (HP:0003306)1.69627601
179Nonprogressive disorder (HP:0003680)1.69042276
180Flat occiput (HP:0005469)1.68996574
181Polar cataract (HP:0010696)1.68530579
182Stridor (HP:0010307)1.66676179
183Increased CSF protein (HP:0002922)1.66590226
184Increased serum lactate (HP:0002151)1.65272350
185Dicarboxylic aciduria (HP:0003215)1.64966879
186Abnormality of dicarboxylic acid metabolism (HP:0010995)1.64966879
187Type 2 muscle fiber atrophy (HP:0003554)1.64725993
188Difficulty climbing stairs (HP:0003551)1.64139093
189Abnormal delayed hypersensitivity skin test (HP:0002963)1.63973153
190Stomatitis (HP:0010280)1.63880099
191Hyperparathyroidism (HP:0000843)1.63675906
192Scapular winging (HP:0003691)1.63355264
193Abnormality of polysaccharide metabolism (HP:0011012)1.62132912
194Abnormality of glycosaminoglycan metabolism (HP:0004371)1.62132912
195Abnormality of mucopolysaccharide metabolism (HP:0011020)1.62132912
196Exercise intolerance (HP:0003546)1.60906391
197Chronic otitis media (HP:0000389)1.60649583
198Eczematoid dermatitis (HP:0000976)1.59841567
199Microcytic anemia (HP:0001935)1.59267670

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK37.95363857
2TNIK7.16014068
3OBSCN3.83433285
4STK163.73557099
5PHKG23.63512863
6PHKG13.63512863
7CAMKK23.48656425
8LMTK23.32008609
9NLK2.76325184
10RIPK12.30214485
11EIF2AK22.28705810
12MKNK22.24352646
13FES2.18318324
14IRAK32.16911832
15TTN2.15482726
16IRAK42.08820284
17MAPK152.05226992
18MAP3K131.91981547
19FLT31.86565607
20TEC1.86021427
21DAPK21.74444243
22EPHA21.68727356
23MOS1.68681179
24TRIB31.65874677
25MAP3K91.65870054
26LATS21.62591559
27MAPK121.58401204
28INSRR1.57985367
29ZAK1.54648911
30MST1R1.52982862
31SCYL21.52902057
32MAP3K21.49012529
33TGFBR21.47324255
34PAK61.41487153
35CASK1.39485948
36PDK21.36527744
37VRK11.36048562
38CAMK2G1.35783364
39PIM21.33053382
40MARK11.32806572
41ERN11.32269127
42SIK11.24930970
43KIT1.21674158
44MAP3K31.21482717
45SGK31.19965426
46PASK1.18709314
47NTRK21.17382788
48NME21.15196515
49LIMK11.14651922
50TRPM71.14002899
51MKNK11.13540530
52MUSK1.12707115
53CAMK2B1.11914126
54DMPK1.07980829
55WEE11.06808914
56KSR21.05535134
57IRAK11.02117863
58SGK21.00889438
59MAP3K11.00854590
60EPHA40.99816222
61BTK0.99785300
62DDR20.99782076
63MAP2K70.99104852
64ACVR1B0.99099003
65NTRK10.98986606
66PIK3CG0.97987371
67MAPK70.96961701
68PRPF4B0.96199354
69PDPK10.93174518
70MAP3K70.92367119
71ROCK20.91557894
72SGK4940.91064820
73SGK2230.91064820
74PDGFRA0.90671147
75TESK10.90626240
76PKN10.89503611
77CAMK2D0.89460833
78PTK20.86126832
79CAMK10.85795264
80HIPK20.83490761
81BRSK20.81463119
82ROCK10.80868027
83NTRK30.79733294
84CAMKK10.78543341
85PRKAA20.78127303
86BCKDK0.78112393
87MARK20.77447025
88BLK0.77346208
89CDK190.76572574
90NEK60.75335309
91JAK10.74459028
92YES10.73600067
93MET0.73574162
94ZAP700.73284622
95PDK10.72989864
96CDK50.71065618
97CDC42BPA0.70987534
98GRK50.70258491
99TLK10.70127972
100STK380.69623929
101PRKD30.68967186
102ADRBK20.67273917
103CAMK2A0.66394390
104MAP2K10.65998205
105RIPK40.64347906
106IRAK20.63564133
107MAPK100.63531037
108SYK0.61727840
109MAPKAPK30.59279452
110LYN0.59063614
111SGK10.58154813
112PRKCH0.57582496
113KDR0.57503196
114STK240.56895091
115MAP2K30.56584508
116WNK30.56322000
117MAP3K120.54727741
118ICK0.54714523
119PRKAA10.52183118
120PDGFRB0.52154908
121PRKD10.51490952
122PAK40.51169064
123TAOK20.50776902
124DYRK30.50017356
125BRAF0.49467628
126PINK10.49101357
127BUB10.49086743
128CAMK1G0.48483117
129PRKG10.48471779
130FER0.48334051
131DAPK10.48332730
132JAK30.48177358
133RPS6KA40.47945379
134MAPK130.46848024
135TAOK30.46448877
136STK38L0.44972759
137MAP4K10.44895964
138SRPK10.44521334
139CSK0.44115308
140TBK10.43950207
141EPHB20.43939212
142TYK20.43883247
143IKBKE0.43541789
144EPHA30.43130899
145CDK80.42802545
146MAPK40.42758508
147CAMK1D0.40819405
148CAMK40.40704317
149RPS6KA20.39399856
150CDK30.39273545
151MATK0.39236929
152CDC70.39074392
153BMX0.38677668
154MAP3K140.38640640
155BMPR20.36527776
156UHMK10.36467415
157ATR0.35350169
158CCNB10.34705129
159IKBKB0.34561766
160CSF1R0.33821528
161MAP3K60.33296419
162TXK0.33217291
163BMPR1B0.32679150
164ARAF0.30719048
165LCK0.30524671
166EIF2AK10.28929883
167MAP2K60.28929100
168CDK70.28078847
169BRSK10.27581849
170PLK40.25306928
171ITK0.23592931
172PRKG20.21625168
173AURKA0.19850844
174ABL20.19560342
175PRKD20.17706598
176GRK70.16539513

Predicted pathways (KEGG)

RankGene SetZ-score
1Protein export_Homo sapiens_hsa030605.41303500
2DNA replication_Homo sapiens_hsa030304.17256504
3Maturity onset diabetes of the young_Homo sapiens_hsa049503.79586383
4N-Glycan biosynthesis_Homo sapiens_hsa005103.32281200
5Other glycan degradation_Homo sapiens_hsa005112.87025301
6Mismatch repair_Homo sapiens_hsa034302.63722725
7Ribosome_Homo sapiens_hsa030102.38701703
8Homologous recombination_Homo sapiens_hsa034402.37052849
9Base excision repair_Homo sapiens_hsa034102.04191965
10Proteasome_Homo sapiens_hsa030502.04061897
11Pyrimidine metabolism_Homo sapiens_hsa002401.98402044
12Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.95941343
13Synaptic vesicle cycle_Homo sapiens_hsa047211.93968221
14Long-term potentiation_Homo sapiens_hsa047201.82014667
15Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.78864362
16Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.75614661
17Gastric acid secretion_Homo sapiens_hsa049711.74774164
18Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.69098630
19Fanconi anemia pathway_Homo sapiens_hsa034601.66400342
20Renin secretion_Homo sapiens_hsa049241.65819865
21* Circadian rhythm_Homo sapiens_hsa047101.64649122
22Folate biosynthesis_Homo sapiens_hsa007901.62492152
23Nucleotide excision repair_Homo sapiens_hsa034201.62111003
24Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.56106579
25Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.55365695
26Regulation of autophagy_Homo sapiens_hsa041401.55040505
27Glycosaminoglycan degradation_Homo sapiens_hsa005311.54968485
28RNA polymerase_Homo sapiens_hsa030201.54923512
29Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.53310439
30RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.49795934
31Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.44379925
32Dilated cardiomyopathy_Homo sapiens_hsa054141.44249681
33Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.42570398
34Thyroid cancer_Homo sapiens_hsa052161.41528986
35Prion diseases_Homo sapiens_hsa050201.41431990
36Salivary secretion_Homo sapiens_hsa049701.40824957
37Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.39218834
38Circadian entrainment_Homo sapiens_hsa047131.38330229
39Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.37108723
40Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.35766549
41Purine metabolism_Homo sapiens_hsa002301.32226424
42Renin-angiotensin system_Homo sapiens_hsa046141.31851989
43Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.29672699
44Amphetamine addiction_Homo sapiens_hsa050311.28847486
45Aldosterone synthesis and secretion_Homo sapiens_hsa049251.28814031
46GnRH signaling pathway_Homo sapiens_hsa049121.28486728
47Oxytocin signaling pathway_Homo sapiens_hsa049211.27747025
48Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.25585787
49Non-homologous end-joining_Homo sapiens_hsa034501.25579558
50Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.25011336
51SNARE interactions in vesicular transport_Homo sapiens_hsa041301.23667663
52Estrogen signaling pathway_Homo sapiens_hsa049151.21749853
53cGMP-PKG signaling pathway_Homo sapiens_hsa040221.19193705
54Lysosome_Homo sapiens_hsa041421.18426373
55Oxidative phosphorylation_Homo sapiens_hsa001901.17766326
56Glutamatergic synapse_Homo sapiens_hsa047241.15981204
57Sulfur metabolism_Homo sapiens_hsa009201.15794242
58Vibrio cholerae infection_Homo sapiens_hsa051101.14023697
59Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.12104457
60Mineral absorption_Homo sapiens_hsa049781.11787291
61Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.11633278
62Pancreatic secretion_Homo sapiens_hsa049721.10320463
63GABAergic synapse_Homo sapiens_hsa047271.09367848
64Calcium signaling pathway_Homo sapiens_hsa040201.08653553
65Collecting duct acid secretion_Homo sapiens_hsa049661.03061108
66Basal transcription factors_Homo sapiens_hsa030221.02015656
67Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.01965927
68Thyroid hormone synthesis_Homo sapiens_hsa049181.01589647
69Insulin signaling pathway_Homo sapiens_hsa049101.01493143
70Spliceosome_Homo sapiens_hsa030400.99035420
71Glucagon signaling pathway_Homo sapiens_hsa049220.97636668
72Dopaminergic synapse_Homo sapiens_hsa047280.95049933
73Nicotine addiction_Homo sapiens_hsa050330.94907118
74Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.94648800
75Galactose metabolism_Homo sapiens_hsa000520.93253655
76Bile secretion_Homo sapiens_hsa049760.93145438
77cAMP signaling pathway_Homo sapiens_hsa040240.91646504
78Sphingolipid metabolism_Homo sapiens_hsa006000.89923562
79Primary immunodeficiency_Homo sapiens_hsa053400.89721267
80Insulin secretion_Homo sapiens_hsa049110.89248533
81Dorso-ventral axis formation_Homo sapiens_hsa043200.88825783
82Cocaine addiction_Homo sapiens_hsa050300.87855324
83Cholinergic synapse_Homo sapiens_hsa047250.87639736
84Phospholipase D signaling pathway_Homo sapiens_hsa040720.87464854
85Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.87449048
86Morphine addiction_Homo sapiens_hsa050320.86908966
87Long-term depression_Homo sapiens_hsa047300.86244100
88Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.86232008
89Vascular smooth muscle contraction_Homo sapiens_hsa042700.85761428
90Phosphatidylinositol signaling system_Homo sapiens_hsa040700.85153354
91Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.84380769
92Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.83544575
93Leishmaniasis_Homo sapiens_hsa051400.83283545
94Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.83275592
95Arginine and proline metabolism_Homo sapiens_hsa003300.82836279
96Type I diabetes mellitus_Homo sapiens_hsa049400.82653708
97RNA degradation_Homo sapiens_hsa030180.81712867
98Cardiac muscle contraction_Homo sapiens_hsa042600.80939517
99Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.80169943
100One carbon pool by folate_Homo sapiens_hsa006700.79984810
101Fructose and mannose metabolism_Homo sapiens_hsa000510.79514647
102Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.79468705
103Staphylococcus aureus infection_Homo sapiens_hsa051500.77047904
104AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.76925991
105Glioma_Homo sapiens_hsa052140.76786681
106Renal cell carcinoma_Homo sapiens_hsa052110.76370384
107PPAR signaling pathway_Homo sapiens_hsa033200.75831827
108Selenocompound metabolism_Homo sapiens_hsa004500.75006999
109AMPK signaling pathway_Homo sapiens_hsa041520.74477509
110Pentose phosphate pathway_Homo sapiens_hsa000300.73634740
111Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.73376848
112Thyroid hormone signaling pathway_Homo sapiens_hsa049190.73222161
113Type II diabetes mellitus_Homo sapiens_hsa049300.72610608
114Insulin resistance_Homo sapiens_hsa049310.70600569
115Arachidonic acid metabolism_Homo sapiens_hsa005900.70405825
116Antigen processing and presentation_Homo sapiens_hsa046120.69604772
117Focal adhesion_Homo sapiens_hsa045100.67777774
118Herpes simplex infection_Homo sapiens_hsa051680.67444799
119Gap junction_Homo sapiens_hsa045400.66831335
120Adipocytokine signaling pathway_Homo sapiens_hsa049200.66312051
121NF-kappa B signaling pathway_Homo sapiens_hsa040640.65795324
122Phagosome_Homo sapiens_hsa041450.65217347
123Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.65110356
124Neurotrophin signaling pathway_Homo sapiens_hsa047220.64654189
125Amoebiasis_Homo sapiens_hsa051460.64183280
126Melanogenesis_Homo sapiens_hsa049160.63775680
127Parkinsons disease_Homo sapiens_hsa050120.63689899
128Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.63420503
129Nitrogen metabolism_Homo sapiens_hsa009100.63366601
130ErbB signaling pathway_Homo sapiens_hsa040120.62943809
131Toll-like receptor signaling pathway_Homo sapiens_hsa046200.62724243
132Legionellosis_Homo sapiens_hsa051340.62597832
133p53 signaling pathway_Homo sapiens_hsa041150.61485178
134Drug metabolism - other enzymes_Homo sapiens_hsa009830.61039638
135Phenylalanine metabolism_Homo sapiens_hsa003600.58990863
136ABC transporters_Homo sapiens_hsa020100.58788452
137Endocytosis_Homo sapiens_hsa041440.58075166
138Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.57942631
139Inositol phosphate metabolism_Homo sapiens_hsa005620.57937005
140Tight junction_Homo sapiens_hsa045300.57565690
141Rap1 signaling pathway_Homo sapiens_hsa040150.56805959
142Sphingolipid signaling pathway_Homo sapiens_hsa040710.54876469
143Pertussis_Homo sapiens_hsa051330.54344798
144ECM-receptor interaction_Homo sapiens_hsa045120.53981544
145Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.53963098
146beta-Alanine metabolism_Homo sapiens_hsa004100.53902128
147Measles_Homo sapiens_hsa051620.53656438
148mTOR signaling pathway_Homo sapiens_hsa041500.53482997
149Metabolic pathways_Homo sapiens_hsa011000.53400549
150Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.52303826
151Sulfur relay system_Homo sapiens_hsa041220.52231175
152HIF-1 signaling pathway_Homo sapiens_hsa040660.51763384
153Hematopoietic cell lineage_Homo sapiens_hsa046400.51050293
154Asthma_Homo sapiens_hsa053100.50434075
155Acute myeloid leukemia_Homo sapiens_hsa052210.47923395
156Phototransduction_Homo sapiens_hsa047440.47824586
157Alzheimers disease_Homo sapiens_hsa050100.47677964
158Huntingtons disease_Homo sapiens_hsa050160.47326786
159Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.46645504
160Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.45078060
161Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.44067434
162Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.42858754
163Glutathione metabolism_Homo sapiens_hsa004800.42442850
164Systemic lupus erythematosus_Homo sapiens_hsa053220.42031841
165Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.41223519
166Cell cycle_Homo sapiens_hsa041100.40326594
167Alcoholism_Homo sapiens_hsa050340.38366792
168NOD-like receptor signaling pathway_Homo sapiens_hsa046210.38344959
169Osteoclast differentiation_Homo sapiens_hsa043800.37576308
170Malaria_Homo sapiens_hsa051440.37170902
171Transcriptional misregulation in cancer_Homo sapiens_hsa052020.37092766
172Tuberculosis_Homo sapiens_hsa051520.36584528
173Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.35555111
174Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.33184285
175Histidine metabolism_Homo sapiens_hsa003400.32255905
176Intestinal immune network for IgA production_Homo sapiens_hsa046720.31939912
177Rheumatoid arthritis_Homo sapiens_hsa053230.30065577
178Starch and sucrose metabolism_Homo sapiens_hsa005000.29864876
179Carbohydrate digestion and absorption_Homo sapiens_hsa049730.28399350
180RNA transport_Homo sapiens_hsa030130.27451590
181Allograft rejection_Homo sapiens_hsa053300.27338242
182Taste transduction_Homo sapiens_hsa047420.27105935
183Fatty acid elongation_Homo sapiens_hsa000620.26971420

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