CFC1

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 member of the epidermal growth factor (EGF)- Cripto, Frl-1, and Cryptic (CFC) family, which are involved in signalling during embryonic development. Proteins in this family share a variant EGF-like motif, a conserved cysteine-rich domain, and a C-terminal hydrophobic region. The protein encoded by this gene is necessary for patterning the left-right embryonic axis. Mutations in this gene are associated with defects in organ development, including autosomal visceral heterotaxy and congenital heart disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1ribosomal small subunit assembly (GO:0000028)8.15633752
2regulation of mesoderm development (GO:2000380)7.70125319
3cell migration involved in gastrulation (GO:0042074)7.33922864
4viral transcription (GO:0019083)7.16723549
5maturation of SSU-rRNA (GO:0030490)7.15234392
6ribosomal small subunit biogenesis (GO:0042274)7.06630053
7translational termination (GO:0006415)6.94064038
8translational elongation (GO:0006414)6.21686543
9SRP-dependent cotranslational protein targeting to membrane (GO:0006614)5.76834053
10cotranslational protein targeting to membrane (GO:0006613)5.63704342
11protein targeting to ER (GO:0045047)5.63210550
12regulation of type B pancreatic cell apoptotic process (GO:2000674)5.46155738
13establishment of protein localization to endoplasmic reticulum (GO:0072599)5.35657163
14cellular protein complex disassembly (GO:0043624)5.34896501
15viral life cycle (GO:0019058)5.26713210
16nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)5.26378444
17protein localization to endoplasmic reticulum (GO:0070972)5.26244792
18translational initiation (GO:0006413)5.06625443
19* nodal signaling pathway (GO:0038092)5.05915197
20establishment of integrated proviral latency (GO:0075713)4.84894944
21peptide hormone processing (GO:0016486)4.84400165
22L-alpha-amino acid transmembrane transport (GO:1902475)4.82974678
23protein complex disassembly (GO:0043241)4.82122520
24insulin secretion (GO:0030073)4.72627925
25signal transduction involved in regulation of gene expression (GO:0023019)4.71866869
26negative regulation of execution phase of apoptosis (GO:1900118)4.71057355
27endocrine pancreas development (GO:0031018)4.60415432
28positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:003574.56511760
29regulation of gene silencing by RNA (GO:0060966)4.51917288
30regulation of posttranscriptional gene silencing (GO:0060147)4.51917288
31regulation of gene silencing by miRNA (GO:0060964)4.51917288
32macromolecular complex disassembly (GO:0032984)4.47255808
33positive regulation of insulin secretion (GO:0032024)4.40319811
34positive regulation of gluconeogenesis (GO:0045722)4.37963169
35epithelial cell fate commitment (GO:0072148)4.33980580
36regulation of transcription from RNA polymerase II promoter involved in heart development (GO:1901214.24834568
37cellular ketone body metabolic process (GO:0046950)4.23316460
38doxorubicin metabolic process (GO:0044598)4.09882574
39daunorubicin metabolic process (GO:0044597)4.09882574
40polyketide metabolic process (GO:0030638)4.09882574
41inositol phosphate catabolic process (GO:0071545)4.06253404
42glycerophospholipid catabolic process (GO:0046475)4.05580326
43macroautophagy (GO:0016236)4.04381466
44signal peptide processing (GO:0006465)3.97286498
45translation (GO:0006412)3.94212317
46paraxial mesoderm development (GO:0048339)3.93342658
47inositol phosphate dephosphorylation (GO:0046855)3.89845063
48phosphorylated carbohydrate dephosphorylation (GO:0046838)3.89845063
49detection of calcium ion (GO:0005513)3.86029052
50secondary heart field specification (GO:0003139)3.84234746
51heart field specification (GO:0003128)3.84234746
52mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.82948543
53pre-miRNA processing (GO:0031054)3.81953040
54auditory receptor cell differentiation (GO:0042491)3.81668355
55negative regulation of cell fate specification (GO:0009996)3.81532199
56positive regulation of peptide hormone secretion (GO:0090277)3.74314676
57respiratory chain complex IV assembly (GO:0008535)3.73975745
58energy coupled proton transport, down electrochemical gradient (GO:0015985)3.72958966
59ATP synthesis coupled proton transport (GO:0015986)3.72958966
60ketone body metabolic process (GO:1902224)3.72860637
61nuclear-transcribed mRNA catabolic process (GO:0000956)3.72488270
62ribosomal large subunit biogenesis (GO:0042273)3.68099533
63glandular epithelial cell differentiation (GO:0002067)3.67937450
64regulation of Wnt signaling pathway involved in heart development (GO:0003307)3.66293045
65negative regulation of cytosolic calcium ion concentration (GO:0051481)3.66044975
66regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022353.64671720
67nitric oxide mediated signal transduction (GO:0007263)3.63089305
68water-soluble vitamin biosynthetic process (GO:0042364)3.62230666
69establishment of viral latency (GO:0019043)3.61767416
70positive regulation of peptide secretion (GO:0002793)3.60585020
71protein targeting to membrane (GO:0006612)3.60120623
72outflow tract septum morphogenesis (GO:0003148)3.59157883
73positive regulation of histone H3-K4 methylation (GO:0051571)3.58022115
74regulation of hexokinase activity (GO:1903299)3.57199730
75regulation of glucokinase activity (GO:0033131)3.57199730
76mRNA catabolic process (GO:0006402)3.50138724
77ribonucleoprotein complex biogenesis (GO:0022613)3.49751264
78histone H2A monoubiquitination (GO:0035518)3.46080706
79otic vesicle formation (GO:0030916)3.43928464
80positive regulation of macroautophagy (GO:0016239)3.43699119
81positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.42729695
82regulation of cardioblast differentiation (GO:0051890)3.41116138
83cytochrome complex assembly (GO:0017004)3.39925388
84lung morphogenesis (GO:0060425)3.39888789
85regulation of insulin secretion (GO:0050796)3.39241371
86erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.38549535
87L-phenylalanine catabolic process (GO:0006559)3.38549535
88polyol catabolic process (GO:0046174)3.35537462
89positive regulation of calcium ion import (GO:0090280)3.34756808
90peptide hormone secretion (GO:0030072)3.33724677
91cardiac right ventricle morphogenesis (GO:0003215)3.33555725
92negative regulation of hormone biosynthetic process (GO:0032353)3.32730626
93positive regulation of neurotransmitter transport (GO:0051590)3.31111178
94positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.30943476
95uterus development (GO:0060065)3.29381369
96* gastrulation (GO:0007369)3.29190274
97positive regulation of glycolytic process (GO:0045821)3.26982031
98peptide secretion (GO:0002790)3.25127133
99protein K6-linked ubiquitination (GO:0085020)3.24153086
100RNA catabolic process (GO:0006401)3.22663825
101protein localization to kinetochore (GO:0034501)3.21433854
102regulation of autophagic vacuole assembly (GO:2000785)3.20919144
103lactate metabolic process (GO:0006089)3.18675400
104formation of translation preinitiation complex (GO:0001731)3.18589879
105regulation of extracellular matrix disassembly (GO:0010715)3.17565406
106erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.15700261
107L-phenylalanine metabolic process (GO:0006558)3.15700261
108nucleobase biosynthetic process (GO:0046112)3.10831194
109regulation of peptide hormone secretion (GO:0090276)3.08027989
110transcription elongation from RNA polymerase III promoter (GO:0006385)3.07193409
111termination of RNA polymerase III transcription (GO:0006386)3.07193409
112nitric oxide biosynthetic process (GO:0006809)3.04365574
113pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.03690018
114proteasome assembly (GO:0043248)3.03678899
115establishment of apical/basal cell polarity (GO:0035089)3.02754540
116rRNA processing (GO:0006364)3.02214444
117regulation of execution phase of apoptosis (GO:1900117)3.02206363
118neuron fate determination (GO:0048664)3.01764029
119regulation of peptide secretion (GO:0002791)3.00997368
120spliceosomal complex assembly (GO:0000245)2.99757098
121mesonephros development (GO:0001823)2.97214132
122DNA integration (GO:0015074)2.96808007
123regulation of neurotransmitter uptake (GO:0051580)2.96759322
124toxin transport (GO:1901998)2.95357199
125inositol phosphate-mediated signaling (GO:0048016)2.95338366
126negative regulation of striated muscle cell apoptotic process (GO:0010664)2.94310060
127endoderm formation (GO:0001706)2.92930880
128negative regulation of hormone metabolic process (GO:0032351)2.92699162
129cardiac muscle tissue morphogenesis (GO:0055008)2.92331081
130DNA unwinding involved in DNA replication (GO:0006268)2.91727655
131histone H2A ubiquitination (GO:0033522)2.90549384
132sequestering of extracellular ligand from receptor (GO:0035581)2.90474309
133type B pancreatic cell development (GO:0003323)2.88512734
134oxidative phosphorylation (GO:0006119)2.86950531
135DNA deamination (GO:0045006)2.86659127
136purine nucleobase biosynthetic process (GO:0009113)2.84736314
137rRNA metabolic process (GO:0016072)2.82827305
138polarized epithelial cell differentiation (GO:0030859)2.82733461
139positive regulation of hormone secretion (GO:0046887)2.81886925
140dendritic spine morphogenesis (GO:0060997)2.80858461
141positive regulation of response to extracellular stimulus (GO:0032106)2.79031283
142positive regulation of response to nutrient levels (GO:0032109)2.79031283
143cellular zinc ion homeostasis (GO:0006882)2.78619378
144negative regulation of neurological system process (GO:0031645)2.77249028
145chemosensory behavior (GO:0007635)2.77212301
146positive regulation of endothelial cell differentiation (GO:0045603)2.76687299
147DNA replication initiation (GO:0006270)2.76288871
148succinate metabolic process (GO:0006105)2.76008488
149regulation of mitochondrial translation (GO:0070129)2.74548063
150regulation of hormone secretion (GO:0046883)2.74205098
151toxin metabolic process (GO:0009404)2.73395096
152zinc ion homeostasis (GO:0055069)2.73251378
153primitive streak formation (GO:0090009)2.73120148
154response to dietary excess (GO:0002021)2.72986565
155cardiac myofibril assembly (GO:0055003)2.72299797
156CENP-A containing nucleosome assembly (GO:0034080)2.71935137
157rRNA modification (GO:0000154)2.71643981
158regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)2.71309173
159regulation of dopamine uptake involved in synaptic transmission (GO:0051584)2.71309173
160peptide transport (GO:0015833)2.70161687
161axoneme assembly (GO:0035082)2.70053580
162nephron epithelium morphogenesis (GO:0072088)2.69238753
163nephron tubule morphogenesis (GO:0072078)2.69238753
164regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)2.68823537
165retinol metabolic process (GO:0042572)2.68398907
166positive regulation of meiosis (GO:0045836)2.68119143
167magnesium ion transport (GO:0015693)2.67937066
168ribosome assembly (GO:0042255)2.67449420
169xenobiotic catabolic process (GO:0042178)2.66777146
170regulation of vacuole organization (GO:0044088)2.65610088
171positive regulation of gastrulation (GO:2000543)2.65502133
172astrocyte differentiation (GO:0048708)2.64854175
173membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.64775830
174protein autoprocessing (GO:0016540)2.64628688
175organic cation transport (GO:0015695)2.64291590
176DNA strand elongation involved in DNA replication (GO:0006271)2.63776548
177calcium ion import (GO:0070509)2.60953293
178potassium ion export (GO:0071435)2.60531440
179regulation of gastrulation (GO:0010470)2.60033209
180negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.59882063
181energy homeostasis (GO:0097009)2.59050719
182deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.58943254
183neuron fate specification (GO:0048665)2.58923166
184artery smooth muscle contraction (GO:0014824)2.58382904
185hormone secretion (GO:0046879)2.57307674
186protein complex biogenesis (GO:0070271)2.56836873
187response to glucose (GO:0009749)2.56049214
188regulation of spindle organization (GO:0090224)2.55992607
189positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic proc2.55122144
190DNA replication-independent nucleosome organization (GO:0034724)2.54628889
191DNA replication-independent nucleosome assembly (GO:0006336)2.54628889
192regulation of calcium ion-dependent exocytosis (GO:0017158)2.53775864
193renal tubule morphogenesis (GO:0061333)2.53744863
194muscle tissue morphogenesis (GO:0060415)2.52682493
195establishment of monopolar cell polarity (GO:0061162)2.51275812
196establishment or maintenance of monopolar cell polarity (GO:0061339)2.51275812
197cellular component biogenesis (GO:0044085)2.49666513
198chromatin remodeling at centromere (GO:0031055)2.49383945
199actin-myosin filament sliding (GO:0033275)2.49114803
200muscle filament sliding (GO:0030049)2.49114803

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse8.75101919
2MYC_18555785_ChIP-Seq_MESCs_Mouse4.82726381
3TP63_17297297_ChIP-ChIP_HaCaT_Human4.46225284
4EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.18702287
5E2F7_22180533_ChIP-Seq_HELA_Human3.76279729
6MYC_19079543_ChIP-ChIP_MESCs_Mouse3.30773631
7MYC_18358816_ChIP-ChIP_MESCs_Mouse2.95729512
8EST1_17652178_ChIP-ChIP_JURKAT_Human2.95142886
9MYC_19030024_ChIP-ChIP_MESCs_Mouse2.92748656
10GABP_17652178_ChIP-ChIP_JURKAT_Human2.87723747
11GBX2_23144817_ChIP-Seq_PC3_Human2.83212019
12HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.75402206
13ETS1_20019798_ChIP-Seq_JURKAT_Human2.73692382
14TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.68490157
15XRN2_22483619_ChIP-Seq_HELA_Human2.63350150
16CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.58870417
17CREB1_15753290_ChIP-ChIP_HEK293T_Human2.53876777
18JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.52742867
19E2F4_17652178_ChIP-ChIP_JURKAT_Human2.49855750
20GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.47677903
21POU3F2_20337985_ChIP-ChIP_501MEL_Human2.47283583
22KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.45418985
23NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.40469070
24NELFA_20434984_ChIP-Seq_ESCs_Mouse2.36889619
25ZFP57_27257070_Chip-Seq_ESCs_Mouse2.30742132
26E2F1_18555785_ChIP-Seq_MESCs_Mouse2.30089457
27SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.25095377
28POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.19756152
29IGF1R_20145208_ChIP-Seq_DFB_Human2.15312227
30FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.13860381
31NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.13818854
32THAP11_20581084_ChIP-Seq_MESCs_Mouse2.13200502
33RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.08773765
34SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.06657819
35VDR_23849224_ChIP-Seq_CD4+_Human2.01160124
36NANOG_18555785_ChIP-Seq_MESCs_Mouse1.97133447
37NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.92886993
38DCP1A_22483619_ChIP-Seq_HELA_Human1.86654879
39FUS_26573619_Chip-Seq_HEK293_Human1.81021709
40ZNF274_21170338_ChIP-Seq_K562_Hela1.80293192
41TAF15_26573619_Chip-Seq_HEK293_Human1.79289071
42FOXM1_23109430_ChIP-Seq_U2OS_Human1.79272340
43ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.77568681
44HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.76509377
45EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.76264200
46KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.74457566
47CTBP2_25329375_ChIP-Seq_LNCAP_Human1.74051296
48POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.73004156
49PIAS1_25552417_ChIP-Seq_VCAP_Human1.71787138
50* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.71239930
51AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.70400636
52* TTF2_22483619_ChIP-Seq_HELA_Human1.69783452
53* POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.69449381
54ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.68968096
55ELF1_17652178_ChIP-ChIP_JURKAT_Human1.68768817
56* KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.67818064
57HTT_18923047_ChIP-ChIP_STHdh_Human1.65773991
58REST_21632747_ChIP-Seq_MESCs_Mouse1.64376626
59* FLI1_27457419_Chip-Seq_LIVER_Mouse1.63849060
60P300_19829295_ChIP-Seq_ESCs_Human1.63171200
61TCF3_18692474_ChIP-Seq_MEFs_Mouse1.62835632
62SMAD4_21799915_ChIP-Seq_A2780_Human1.62275592
63TP63_19390658_ChIP-ChIP_HaCaT_Human1.61976239
64SRF_21415370_ChIP-Seq_HL-1_Mouse1.61847364
65MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.60095981
66TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.56638731
67ZFX_18555785_ChIP-Seq_MESCs_Mouse1.56347298
68CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.55494537
69BCAT_22108803_ChIP-Seq_LS180_Human1.55100164
70ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.53078758
71CDX2_19796622_ChIP-Seq_MESCs_Mouse1.52820688
72KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.51184300
73KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.51184300
74KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.51184300
75SMAD3_21741376_ChIP-Seq_EPCs_Human1.50439491
76RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.49887463
77IKZF1_21737484_ChIP-ChIP_HCT116_Human1.47892467
78PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.47501595
79AR_25329375_ChIP-Seq_VCAP_Human1.47264490
80CTBP1_25329375_ChIP-Seq_LNCAP_Human1.46667150
81GABP_19822575_ChIP-Seq_HepG2_Human1.45643297
82MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.44605546
83FOXP3_21729870_ChIP-Seq_TREG_Human1.43662130
84SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.43640109
85REST_18959480_ChIP-ChIP_MESCs_Mouse1.42717192
86SOX2_18555785_ChIP-Seq_MESCs_Mouse1.42624528
87CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.42295407
88GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.41768207
89SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.41460653
90NR3C1_23031785_ChIP-Seq_PC12_Mouse1.40729753
91STAT3_1855785_ChIP-Seq_MESCs_Mouse1.40698410
92SOX2_18692474_ChIP-Seq_MEFs_Mouse1.40324672
93NANOG_18555785_Chip-Seq_ESCs_Mouse1.40263468
94CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.40125298
95SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.38728293
96SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.38678872
97SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.38353090
98* OCT4_18692474_ChIP-Seq_MEFs_Mouse1.38215733
99TP53_22573176_ChIP-Seq_HFKS_Human1.35845465
100ELK1_19687146_ChIP-ChIP_HELA_Human1.34911655
101NANOG_21062744_ChIP-ChIP_HESCs_Human1.34496767
102CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.33204691
103VDR_22108803_ChIP-Seq_LS180_Human1.32360258
104MYCN_18555785_ChIP-Seq_MESCs_Mouse1.31576465
105SRY_22984422_ChIP-ChIP_TESTIS_Rat1.31062308
106* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.30264541
107CBX2_27304074_Chip-Seq_ESCs_Mouse1.29983458
108FOXA1_27270436_Chip-Seq_PROSTATE_Human1.29305939
109FOXA1_25329375_ChIP-Seq_VCAP_Human1.29305939
110STAT3_23295773_ChIP-Seq_U87_Human1.28220113
111SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.27937871
112OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.27780905
113* NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.27451092
114ELK1_22589737_ChIP-Seq_MCF10A_Human1.26627463
115TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.26620223
116HOXB4_20404135_ChIP-ChIP_EML_Mouse1.25261693
117TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.25232635
118* PCGF2_27294783_Chip-Seq_ESCs_Mouse1.24592280
119* NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.23437508
120* P53_22387025_ChIP-Seq_ESCs_Mouse1.22758080
121MYC_18940864_ChIP-ChIP_HL60_Human1.22590975
122* FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.22080352
123ZNF217_24962896_ChIP-Seq_MCF-7_Human1.22037605
124ER_23166858_ChIP-Seq_MCF-7_Human1.20151387
125HIF1A_21447827_ChIP-Seq_MCF-7_Human1.20079679
126* NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.19489168
127AR_21909140_ChIP-Seq_LNCAP_Human1.19435907
128POU5F1_16518401_ChIP-PET_MESCs_Mouse1.19114912
129* SUZ12_27294783_Chip-Seq_NPCs_Mouse1.19056283
130TCF3_18692474_ChIP-Seq_MESCs_Mouse1.18288724
131PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.18161375
132SALL1_21062744_ChIP-ChIP_HESCs_Human1.17482684
133DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.17117136
134* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.16794339
135ZNF263_19887448_ChIP-Seq_K562_Human1.15958501
136TCF4_22108803_ChIP-Seq_LS180_Human1.15365475
137* NANOG_16153702_ChIP-ChIP_HESCs_Human1.15337913
138TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.13906955
139NANOG_19829295_ChIP-Seq_ESCs_Human1.13615899
140SOX2_19829295_ChIP-Seq_ESCs_Human1.13615899
141CDX2_22108803_ChIP-Seq_LS180_Human1.13001684
142* CMYC_18555785_Chip-Seq_ESCs_Mouse1.12742431
143* STAT3_18555785_Chip-Seq_ESCs_Mouse1.11923001
144BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.11467988
145TCF4_23295773_ChIP-Seq_U87_Human1.11335501
146* EZH2_27294783_Chip-Seq_NPCs_Mouse1.11323847
147* SOX2_18555785_Chip-Seq_ESCs_Mouse1.10376877
148BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.10295768
149YY1_21170310_ChIP-Seq_MESCs_Mouse1.10194689
150* SUZ12_18555785_Chip-Seq_ESCs_Mouse1.09990931
151* EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.09850625
152KLF4_18555785_ChIP-Seq_MESCs_Mouse1.09448419
153FOXA1_25552417_ChIP-Seq_VCAP_Human1.08912651
154* NFE2_27457419_Chip-Seq_LIVER_Mouse1.08736883
155ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.08610871
156ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.08476187
157CTCF_18555785_ChIP-Seq_MESCs_Mouse1.07700489
158* E2F1_18555785_Chip-Seq_ESCs_Mouse1.07144537
159E2F1_21310950_ChIP-Seq_MCF-7_Human1.06997203
160YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.06459507
161NR3C1_21868756_ChIP-Seq_MCF10A_Human1.06297171
162EWS_26573619_Chip-Seq_HEK293_Human1.05753979
163MYC_22102868_ChIP-Seq_BL_Human1.05639139
164PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.05191184
165RUNX2_22187159_ChIP-Seq_PCA_Human1.04713485
166CBP_20019798_ChIP-Seq_JUKART_Human1.04506875
167IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.04506875
168SOX2_21211035_ChIP-Seq_LN229_Gbm1.04475358
169FOXA1_21572438_ChIP-Seq_LNCaP_Human1.04182091
170ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.03651002
171EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.03331137
172SALL4_18804426_ChIP-ChIP_XEN_Mouse1.02469077
173VDR_21846776_ChIP-Seq_THP-1_Human1.01405086
174SMAD4_21741376_ChIP-Seq_EPCs_Human1.01304158
175SOX17_20123909_ChIP-Seq_XEN_Mouse1.01195891
176PCGF2_27294783_Chip-Seq_NPCs_Mouse1.00882339
177UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.00860576
178* SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.00321034
179FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.99449297
180TOP2B_26459242_ChIP-Seq_MCF-7_Human0.99442228
181SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.99116584
182* NMYC_18555785_Chip-Seq_ESCs_Mouse0.98890589
183TAL1_26923725_Chip-Seq_HPCs_Mouse0.98597024
184TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.98301378
185* CTCF_18555785_Chip-Seq_ESCs_Mouse0.97687219
186TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.97237622
187GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.97076473
188PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.97016299
189MTF2_20144788_ChIP-Seq_MESCs_Mouse0.97002079
190RNF2_27304074_Chip-Seq_NSC_Mouse0.96958019
191DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.96308140
192* P300_18555785_Chip-Seq_ESCs_Mouse0.96259770
193NANOG_18692474_ChIP-Seq_MEFs_Mouse0.96140165
194ZFP281_18757296_ChIP-ChIP_E14_Mouse0.96058350
195FLI1_21867929_ChIP-Seq_TH2_Mouse0.95993240
196* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.95095494
197TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94759981
198SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.93355879

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003283_abnormal_digestive_organ4.84495010
2MP0002837_dystrophic_cardiac_calcinosis4.63455744
3MP0003123_paternal_imprinting4.62680278
4MP0005379_endocrine/exocrine_gland_phen4.43942413
5MP0002909_abnormal_adrenal_gland4.42008693
6MP0004510_myositis4.35329303
7MP0003890_abnormal_embryonic-extraembry4.34096300
8MP0009379_abnormal_foot_pigmentation4.11786255
9MP0009780_abnormal_chondrocyte_physiolo3.37736154
10MP0003787_abnormal_imprinting3.33486930
11* MP0004133_heterotaxia3.30988821
12MP0002254_reproductive_system_inflammat3.23607372
13MP0001944_abnormal_pancreas_morphology3.06368234
14MP0002693_abnormal_pancreas_physiology2.96965732
15MP0010030_abnormal_orbit_morphology2.96008383
16MP0004270_analgesia2.87326373
17MP0002163_abnormal_gland_morphology2.87108678
18MP0005645_abnormal_hypothalamus_physiol2.84702987
19MP0003195_calcinosis2.80778210
20MP0000013_abnormal_adipose_tissue2.80443724
21MP0003941_abnormal_skin_development2.76887647
22MP0004957_abnormal_blastocyst_morpholog2.76750142
23MP0010234_abnormal_vibrissa_follicle2.73533904
24MP0003119_abnormal_digestive_system2.59608872
25MP0006072_abnormal_retinal_apoptosis2.37705798
26MP0003315_abnormal_perineum_morphology2.32913324
27MP0003122_maternal_imprinting2.26269182
28MP0002139_abnormal_hepatobiliary_system2.22932059
29MP0003121_genomic_imprinting2.21639229
30MP0003567_abnormal_fetal_cardiomyocyte2.18682421
31MP0003077_abnormal_cell_cycle2.14424518
32MP0009046_muscle_twitch2.12727547
33MP0005646_abnormal_pituitary_gland2.03450917
34MP0006292_abnormal_olfactory_placode2.01965322
35MP0003693_abnormal_embryo_hatching2.00933100
36MP0002876_abnormal_thyroid_physiology1.99838629
37MP0008932_abnormal_embryonic_tissue1.96023933
38MP0008007_abnormal_cellular_replicative1.91803390
39MP0010386_abnormal_urinary_bladder1.90906181
40MP0002233_abnormal_nose_morphology1.88491487
41MP0010329_abnormal_lipoprotein_level1.87817630
42MP0008877_abnormal_DNA_methylation1.87138709
43MP0005220_abnormal_exocrine_pancreas1.87038520
44MP0002078_abnormal_glucose_homeostasis1.84793415
45MP0005332_abnormal_amino_acid1.77219608
46MP0003385_abnormal_body_wall1.74876141
47MP0004019_abnormal_vitamin_homeostasis1.73801256
48MP0002249_abnormal_larynx_morphology1.71963360
49MP0001756_abnormal_urination1.69979065
50MP0000749_muscle_degeneration1.64374138
51MP0008058_abnormal_DNA_repair1.58439001
52MP0003806_abnormal_nucleotide_metabolis1.57511122
53MP0002234_abnormal_pharynx_morphology1.55087672
54MP0001672_abnormal_embryogenesis/_devel1.55040896
55MP0005380_embryogenesis_phenotype1.55040896
56MP0005084_abnormal_gallbladder_morpholo1.54188633
57* MP0002084_abnormal_developmental_patter1.53418413
58MP0003938_abnormal_ear_development1.53050881
59MP0005365_abnormal_bile_salt1.52341428
60MP0000049_abnormal_middle_ear1.49920748
61MP0010094_abnormal_chromosome_stability1.49155433
62MP0002088_abnormal_embryonic_growth/wei1.47787841
63MP0002086_abnormal_extraembryonic_tissu1.47106707
64MP0003172_abnormal_lysosome_physiology1.45611089
65MP0005448_abnormal_energy_balance1.44264407
66MP0001730_embryonic_growth_arrest1.43501962
67MP0003984_embryonic_growth_retardation1.42296821
68MP0001851_eye_inflammation1.41595615
69MP0002127_abnormal_cardiovascular_syste1.40148701
70MP0003950_abnormal_plasma_membrane1.40060017
71MP0003221_abnormal_cardiomyocyte_apopto1.39294463
72MP0009745_abnormal_behavioral_response1.38466133
73MP0003111_abnormal_nucleus_morphology1.38129136
74MP0000003_abnormal_adipose_tissue1.33978749
75MP0005636_abnormal_mineral_homeostasis1.33858769
76MP0010630_abnormal_cardiac_muscle1.33124879
77MP0001697_abnormal_embryo_size1.31236737
78MP0005551_abnormal_eye_electrophysiolog1.29952458
79MP0001984_abnormal_olfaction1.29220411
80MP0004197_abnormal_fetal_growth/weight/1.27729699
81MP0000631_abnormal_neuroendocrine_gland1.27343113
82MP0003953_abnormal_hormone_level1.27202479
83MP0002396_abnormal_hematopoietic_system1.25191549
84MP0003011_delayed_dark_adaptation1.25048811
85MP0000678_abnormal_parathyroid_gland1.25022129
86MP0002111_abnormal_tail_morphology1.24488767
87MP0008057_abnormal_DNA_replication1.24201871
88MP0002272_abnormal_nervous_system1.23251923
89MP0001765_abnormal_ion_homeostasis1.22783311
90MP0000428_abnormal_craniofacial_morphol1.21958414
91MP0002928_abnormal_bile_duct1.21489730
92MP0002098_abnormal_vibrissa_morphology1.20852786
93MP0005253_abnormal_eye_physiology1.20739075
94MP0002734_abnormal_mechanical_nocicepti1.18849331
95MP0002064_seizures1.17314065
96MP0002557_abnormal_social/conspecific_i1.17242928
97MP0002085_abnormal_embryonic_tissue1.16617647
98MP0003942_abnormal_urinary_system1.15331096
99MP0003937_abnormal_limbs/digits/tail_de1.13467554
100MP0003115_abnormal_respiratory_system1.13012740
101MP0001501_abnormal_sleep_pattern1.11901076
102MP0002638_abnormal_pupillary_reflex1.11867602
103MP0002080_prenatal_lethality1.08874602
104MP0004043_abnormal_pH_regulation1.08276192
105MP0005535_abnormal_body_temperature1.08250422
106MP0001293_anophthalmia1.07984424
107MP0004885_abnormal_endolymph1.07880660
108MP0002932_abnormal_joint_morphology1.06192504
109MP0001970_abnormal_pain_threshold1.05797621
110MP0000639_abnormal_adrenal_gland1.05399463
111MP0005386_behavior/neurological_phenoty1.03013620
112MP0004924_abnormal_behavior1.03013620
113MP0000432_abnormal_head_morphology1.02973972
114MP0005248_abnormal_Harderian_gland1.02894387
115MP0003633_abnormal_nervous_system1.01514507
116MP0001873_stomach_inflammation1.00388841
117MP0002822_catalepsy0.99613119
118MP0002090_abnormal_vision0.98013239
119MP0002118_abnormal_lipid_homeostasis0.97563362
120MP0003879_abnormal_hair_cell0.97563008
121MP0001849_ear_inflammation0.97210894
122MP0002572_abnormal_emotion/affect_behav0.95789531
123MP0002733_abnormal_thermal_nociception0.95492911
124MP0009697_abnormal_copulation0.94617279
125MP0004808_abnormal_hematopoietic_stem0.93345169
126MP0005423_abnormal_somatic_nervous0.93089922
127MP0000762_abnormal_tongue_morphology0.92521765
128MP0001905_abnormal_dopamine_level0.92281705
129MP0003880_abnormal_central_pattern0.92102408
130MP0008872_abnormal_physiological_respon0.91737585
131MP0005451_abnormal_body_composition0.89527025
132* MP0000266_abnormal_heart_morphology0.89447544
133MP0006036_abnormal_mitochondrial_physio0.88120483
134* MP0002925_abnormal_cardiovascular_devel0.87067642
135MP0004142_abnormal_muscle_tone0.86819459
136MP0010678_abnormal_skin_adnexa0.85313934
137MP0000313_abnormal_cell_death0.85187275
138MP0002102_abnormal_ear_morphology0.84505905
139MP0000350_abnormal_cell_proliferation0.84421381
140MP0005257_abnormal_intraocular_pressure0.84045659
141MP0000537_abnormal_urethra_morphology0.84041999
142MP0010352_gastrointestinal_tract_polyps0.81169694
143MP0001666_abnormal_nutrient_absorption0.81014203
144MP0009643_abnormal_urine_homeostasis0.80222217
145MP0004215_abnormal_myocardial_fiber0.80174093
146MP0004085_abnormal_heartbeat0.79682474
147MP0001340_abnormal_eyelid_morphology0.79320264
148MP0001529_abnormal_vocalization0.79098284
149MP0001968_abnormal_touch/_nociception0.79001012
150MP0001986_abnormal_taste_sensitivity0.78473863
151MP0000490_abnormal_crypts_of0.78395280
152MP0002229_neurodegeneration0.78006917
153MP0004272_abnormal_basement_membrane0.77710881
154MP0004084_abnormal_cardiac_muscle0.77409044
155MP0003566_abnormal_cell_adhesion0.77220570
156MP0002106_abnormal_muscle_physiology0.76974855
157MP0005623_abnormal_meninges_morphology0.76688242
158MP0002069_abnormal_eating/drinking_beha0.75521732
159MP0005452_abnormal_adipose_tissue0.74745077
160MP0003935_abnormal_craniofacial_develop0.74075925
161MP0001544_abnormal_cardiovascular_syste0.73165879
162MP0005385_cardiovascular_system_phenoty0.73165879
163MP0002938_white_spotting0.72532377
164MP0002063_abnormal_learning/memory/cond0.72128303
165MP0000534_abnormal_ureter_morphology0.71157084
166MP0005389_reproductive_system_phenotype0.70593690
167MP0000230_abnormal_systemic_arterial0.70436019
168MP0003868_abnormal_feces_composition0.69914157
169MP0000569_abnormal_digit_pigmentation0.69844937
170MP0008775_abnormal_heart_ventricle0.69650790
171MP0005174_abnormal_tail_pigmentation0.68661315
172MP0001502_abnormal_circadian_rhythm0.67474294
173MP0002277_abnormal_respiratory_mucosa0.66557467
174MP0004087_abnormal_muscle_fiber0.66488075
175MP0000358_abnormal_cell_content/0.66216139
176MP0000427_abnormal_hair_cycle0.65356008
177MP0006276_abnormal_autonomic_nervous0.65212323
178MP0002332_abnormal_exercise_endurance0.64356309
179MP0004883_abnormal_blood_vessel0.64247376
180MP0005330_cardiomyopathy0.63951672
181MP0000613_abnormal_salivary_gland0.63882862
182MP0002972_abnormal_cardiac_muscle0.63184075
183MP0003279_aneurysm0.62808715
184MP0005075_abnormal_melanosome_morpholog0.62009520
185MP0003936_abnormal_reproductive_system0.61505022
186MP0006082_CNS_inflammation0.61410765
187MP0000516_abnormal_urinary_system0.60953792
188MP0005367_renal/urinary_system_phenotyp0.60953792
189MP0000538_abnormal_urinary_bladder0.60884911
190MP0004145_abnormal_muscle_electrophysio0.60872315

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of cells of the erythroid lineage (HP:0012130)4.95356794
2Reticulocytopenia (HP:0001896)4.85526749
3Hypoglycemic seizures (HP:0002173)4.69771975
4Exercise-induced muscle cramps (HP:0003710)4.38951584
5Hyperinsulinemic hypoglycemia (HP:0000825)4.37458314
6Hypoglycemic coma (HP:0001325)4.34157744
7Abnormal number of erythroid precursors (HP:0012131)4.34059176
8Hyperglycemia (HP:0003074)4.30105667
9Ketoacidosis (HP:0001993)4.28237648
10Abnormal pancreas size (HP:0012094)4.23347272
11Macrocytic anemia (HP:0001972)4.19151727
12Large for gestational age (HP:0001520)4.03572291
13Abnormality of aromatic amino acid family metabolism (HP:0004338)3.97352209
14Colon cancer (HP:0003003)3.80966025
15Hypothermia (HP:0002045)3.80030260
16Entropion (HP:0000621)3.67658216
17Poikiloderma (HP:0001029)3.55075606
18Premature skin wrinkling (HP:0100678)3.53128153
19Intestinal atresia (HP:0011100)3.44532285
20Elevated circulating parathyroid hormone (PTH) level (HP:0003165)3.41234128
21Abnormality of vitamin B metabolism (HP:0004340)3.30001416
22Agitation (HP:0000713)3.29941900
2311 pairs of ribs (HP:0000878)3.29557200
24Increased CSF protein (HP:0002922)3.29240202
25Thrombocytosis (HP:0001894)3.28837839
26Aplasia/Hypoplasia of the sacrum (HP:0008517)3.24777353
27Pallor (HP:0000980)3.20813808
28Ketosis (HP:0001946)3.14537676
29Abnormality of DNA repair (HP:0003254)3.13654283
30Myoglobinuria (HP:0002913)3.12366357
31Hemiparesis (HP:0001269)3.11542784
32Symptomatic seizures (HP:0011145)3.09011473
33Enlarged penis (HP:0000040)3.06385583
34Insulin-resistant diabetes mellitus (HP:0000831)2.97023787
35Missing ribs (HP:0000921)2.96446598
36Anhidrosis (HP:0000970)2.95854585
37Sparse eyelashes (HP:0000653)2.93502827
38Abnormality of the pancreatic islet cells (HP:0006476)2.85176739
39Abnormality of endocrine pancreas physiology (HP:0012093)2.85176739
40Broad face (HP:0000283)2.82886932
41Diastasis recti (HP:0001540)2.82511925
42EEG with generalized epileptiform discharges (HP:0011198)2.81459078
43Premature loss of primary teeth (HP:0006323)2.80478236
44Abnormality of vitamin metabolism (HP:0100508)2.75152758
45Rhabdomyolysis (HP:0003201)2.74910204
46Epileptiform EEG discharges (HP:0011182)2.74684296
47Stenosis of the external auditory canal (HP:0000402)2.72996382
48* Double outlet right ventricle (HP:0001719)2.71537105
49* Congenital malformation of the right heart (HP:0011723)2.71537105
50Hypsarrhythmia (HP:0002521)2.67277501
51Renal duplication (HP:0000075)2.66611674
52Increased circulating renin level (HP:0000848)2.66175297
53Methylmalonic acidemia (HP:0002912)2.65119597
54Nuclear cataract (HP:0100018)2.63019799
55Hypoalbuminemia (HP:0003073)2.61680053
56Abnormal albumin level (HP:0012116)2.61680053
57Late onset (HP:0003584)2.57689073
58Multiple enchondromatosis (HP:0005701)2.56286592
59Subaortic stenosis (HP:0001682)2.56230417
60Abnormality of the left ventricular outflow tract (HP:0011103)2.56230417
61Prolonged partial thromboplastin time (HP:0003645)2.53178818
62Supernumerary spleens (HP:0009799)2.51427460
63Abnormality of the fetal cardiovascular system (HP:0010948)2.51223443
64Abnormal umbilical cord blood vessels (HP:0011403)2.51223443
65Single umbilical artery (HP:0001195)2.51223443
66Tubular atrophy (HP:0000092)2.50392930
67Abnormal sex determination (HP:0012244)2.48597327
68Sex reversal (HP:0012245)2.48597327
69Hyperphosphatemia (HP:0002905)2.47669473
70Hyperthyroidism (HP:0000836)2.47638433
71Exercise-induced myalgia (HP:0003738)2.44558253
72Progressive neurologic deterioration (HP:0002344)2.42812068
73* Transposition of the great arteries (HP:0001669)2.40562708
74* Abnormal connection of the cardiac segments (HP:0011545)2.40562708
75* Abnormal ventriculo-arterial connection (HP:0011563)2.40562708
76Aplasia/hypoplasia of the humerus (HP:0006507)2.40368984
77Hepatic necrosis (HP:0002605)2.39553385
78Nephronophthisis (HP:0000090)2.39322269
79Hematochezia (HP:0002573)2.38325035
80Testicular neoplasm (HP:0010788)2.38239110
81Hepatocellular necrosis (HP:0001404)2.36794909
82Abnormality of the renal cortex (HP:0011035)2.36609317
83Abnormality of calcium-phosphate metabolism (HP:0100530)2.36599720
84Conjunctival hamartoma (HP:0100780)2.35793137
85Progressive macrocephaly (HP:0004481)2.34841867
86Muscular hypotonia of the trunk (HP:0008936)2.34563203
87Preauricular pit (HP:0004467)2.33739899
88Periauricular skin pits (HP:0100277)2.33739899
89Decreased circulating renin level (HP:0003351)2.32842014
90Abnormality of homocysteine metabolism (HP:0010919)2.32486447
91Homocystinuria (HP:0002156)2.32486447
92Tongue fasciculations (HP:0001308)2.32439735
93Abnormal lung lobation (HP:0002101)2.32082319
94Muscle stiffness (HP:0003552)2.31944322
95Selective tooth agenesis (HP:0001592)2.31905057
96Pancreatic fibrosis (HP:0100732)2.28024755
97Septo-optic dysplasia (HP:0100842)2.27853207
98Anxiety (HP:0000739)2.25411230
99Rectal fistula (HP:0100590)2.25388210
100Rectovaginal fistula (HP:0000143)2.25388210
101Postural tremor (HP:0002174)2.25322832
102Medial flaring of the eyebrow (HP:0010747)2.24274463
103Hypomagnesemia (HP:0002917)2.23396053
104Limb dystonia (HP:0002451)2.23159097
105Poor suck (HP:0002033)2.22403704
106Hepatoblastoma (HP:0002884)2.21760602
107Periodontitis (HP:0000704)2.18910933
108Pancreatic cysts (HP:0001737)2.17866029
109Breast hypoplasia (HP:0003187)2.17029562
110Rib fusion (HP:0000902)2.15803270
111Limb hypertonia (HP:0002509)2.15555381
112Stillbirth (HP:0003826)2.14703169
113Abnormality of urine glucose concentration (HP:0011016)2.14651435
114Glycosuria (HP:0003076)2.14651435
115Pheochromocytoma (HP:0002666)2.13001185
116Ragged-red muscle fibers (HP:0003200)2.12900024
117Partial duplication of thumb phalanx (HP:0009944)2.12619539
118Methylmalonic aciduria (HP:0012120)2.12361176
119Neuroendocrine neoplasm (HP:0100634)2.12199337
120Abnormality of polysaccharide metabolism (HP:0011012)2.12001721
121Abnormality of glycosaminoglycan metabolism (HP:0004371)2.12001721
122Abnormality of mucopolysaccharide metabolism (HP:0011020)2.12001721
123Mesangial abnormality (HP:0001966)2.11952550
124Abnormal drinking behavior (HP:0030082)2.11437637
125Polydipsia (HP:0001959)2.11437637
126Unilateral renal agenesis (HP:0000122)2.10823551
127Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.09693120
128Furrowed tongue (HP:0000221)2.08185974
129Urinary glycosaminoglycan excretion (HP:0003541)2.05219873
130Mucopolysacchariduria (HP:0008155)2.05219873
131Congenital sensorineural hearing impairment (HP:0008527)2.04620897
132Partial duplication of the phalanx of hand (HP:0009999)2.04383305
133Patent foramen ovale (HP:0001655)2.04326389
134Acute necrotizing encephalopathy (HP:0006965)2.03819395
135Birth length less than 3rd percentile (HP:0003561)2.03745549
136Pancreatic islet-cell hyperplasia (HP:0004510)2.03196600
137Lipid accumulation in hepatocytes (HP:0006561)2.02294365
138Abnormality of reticulocytes (HP:0004312)2.01937651
139Intestinal fistula (HP:0100819)2.01696371
140Cleft eyelid (HP:0000625)2.01620420
141Vaginal fistula (HP:0004320)2.01532594
142Hamartoma of the eye (HP:0010568)2.01339543
143Renal cortical cysts (HP:0000803)2.01195566
144Vacuolated lymphocytes (HP:0001922)2.01053354
145Abnormality of methionine metabolism (HP:0010901)2.00986758
146Centrally nucleated skeletal muscle fibers (HP:0003687)2.00960561
147Striae distensae (HP:0001065)1.99331155
148Carpal bone hypoplasia (HP:0001498)1.98969705
149Severe visual impairment (HP:0001141)1.98563633
150Hypokinesia (HP:0002375)1.98507826
151Vascular calcification (HP:0004934)1.97159000
152Preauricular skin tag (HP:0000384)1.96700157
153Orthostatic hypotension (HP:0001278)1.96150049
154Abnormality of the renal medulla (HP:0100957)1.95612859
155Shawl scrotum (HP:0000049)1.95482521
156Palpitations (HP:0001962)1.94761002
157Exercise intolerance (HP:0003546)1.94109807
158Short humerus (HP:0005792)1.93837637
159Childhood onset (HP:0011463)1.92263465
160Abnormality of glycolysis (HP:0004366)1.91749619
161Increased serum pyruvate (HP:0003542)1.91749619
162Abnormality of midbrain morphology (HP:0002418)1.90891217
163Molar tooth sign on MRI (HP:0002419)1.90891217
164Prominent metopic ridge (HP:0005487)1.90010664
165Muscle fibrillation (HP:0010546)1.89546845
166Poor head control (HP:0002421)1.88944280
167Mitochondrial inheritance (HP:0001427)1.88271879
168Acanthocytosis (HP:0001927)1.86976293
169Aplasia cutis congenita (HP:0001057)1.85308633
170Microvesicular hepatic steatosis (HP:0001414)1.84935026
171Urethral obstruction (HP:0000796)1.84233120
172Abnormality of the aortic arch (HP:0012303)1.83846830
173Decreased activity of mitochondrial respiratory chain (HP:0008972)1.83306948
174Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.83306948
175Broad toe (HP:0001837)1.83232009
176Calf muscle hypertrophy (HP:0008981)1.83037048
177Polyphagia (HP:0002591)1.82480086
178Zonular cataract (HP:0010920)1.81021601
179Abnormality of the parietal bone (HP:0002696)1.80754137
180Micronodular cirrhosis (HP:0001413)1.80715032
181Progressive cerebellar ataxia (HP:0002073)1.80010660
182Aplasia/hypoplasia of the uterus (HP:0008684)1.78698351
183True hermaphroditism (HP:0010459)1.78557258
184Abnormal hemoglobin (HP:0011902)1.78557138
185Diminished movement (HP:0002374)1.77174785
186Absent radius (HP:0003974)1.77156688
187Nemaline bodies (HP:0003798)1.76975392
188Depressed nasal ridge (HP:0000457)1.76929808
189Coarctation of aorta (HP:0001680)1.76251923
1903-Methylglutaconic aciduria (HP:0003535)1.75433956
191Increased hepatocellular lipid droplets (HP:0006565)1.75155164
192Hypoplastic left heart (HP:0004383)1.74333297
193Hypoplasia of the radius (HP:0002984)1.73278166

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK6.66746209
2MAP2K35.80360312
3MAP3K35.71635926
4OBSCN3.72102686
5STK243.27668583
6MAP4K23.09174829
7DAPK23.00444794
8KIT2.97582566
9PHKG22.93958993
10PHKG12.93958993
11FGFR22.91034416
12NME22.83895522
13WEE12.74631596
14CASK2.59861288
15MST42.57618824
16GRK12.49399926
17MAP2K62.48321029
18WNK32.46867848
19NTRK32.40426503
20PLK42.31372051
21PRKD22.26718466
22MYLK2.23804697
23BUB12.09137988
24MUSK2.01526348
25TRIB31.99007379
26MAP3K41.92462019
27ZAK1.87376355
28LATS21.83860021
29PAK31.75251972
30SGK21.72893268
31ADRBK21.72555898
32ILK1.71136658
33EPHA21.68816420
34FGFR31.64944688
35NLK1.58211526
36RPS6KB21.55390964
37PNCK1.54345864
38FER1.53477128
39WNK41.52580595
40TGFBR11.49768406
41TNIK1.47728958
42MKNK11.47452435
43CSNK1G11.45198439
44TIE11.44637213
45ACVR1B1.42249879
46EPHB21.39836168
47TEC1.38015336
48VRK11.37271960
49PINK11.36759094
50PRKCE1.31356169
51SGK4941.30034700
52SGK2231.30034700
53TAOK11.29976237
54ERBB31.29330861
55EPHA31.27655311
56TLK11.27095600
57CDK121.25896349
58TRPM71.24946858
59FLT31.24892234
60PAK21.22925608
61MAP3K81.21954780
62SRPK11.21545353
63CDK191.19391235
64MAP3K111.18957242
65INSRR1.18832210
66CSNK1G31.17989860
67CSNK1G21.17428917
68MKNK21.16462142
69LIMK11.15698947
70CAMK2D1.15009513
71UHMK11.12763932
72TTK1.12343673
73STK101.11573353
74PRKCG1.11374675
75TESK11.10803496
76SGK31.07348804
77PLK21.06714864
78PRKCH0.99742116
79BRSK20.95377456
80LMTK20.85943939
81PAK10.85295370
82AURKB0.85131173
83HIPK20.84913244
84STK30.83152660
85STK38L0.82385073
86DAPK30.81859780
87PKN20.81250410
88IRAK10.81211901
89RIPK10.79523595
90ABL20.79361975
91NME10.77368319
92BMPR1B0.76016847
93CSNK1A1L0.75531943
94PASK0.75170862
95MAP3K20.73766069
96CSF1R0.70693640
97IRAK20.70665492
98MAP3K100.70635531
99PAK40.69379690
100TGFBR20.69356753
101CDC70.68748367
102STK40.68040449
103NUAK10.67898997
104AURKA0.66947683
105STK110.66135720
106BTK0.66081856
107EIF2AK10.65977019
108OXSR10.63910289
109LRRK20.63694653
110PIK3CA0.61988161
111MAP3K10.61982975
112PRKAA10.60988496
113PLK10.60939122
114CAMK10.59836520
115CDK70.58577752
116PRKAA20.57539824
117MAPK130.56567159
118PRKG10.56431555
119BMPR20.55504417
120BRSK10.55297386
121YES10.55069488
122CAMK2A0.54494327
123MAP2K70.54215316
124PTK2B0.54204653
125DAPK10.53352215
126KDR0.52243870
127CDK30.51896151
128PRKD30.51349585
129EIF2AK30.50250466
130TNK20.50026919
131RPS6KA50.48436591
132CSNK2A10.48100456
133SGK10.47818732
134MAP2K40.46613213
135MAP4K10.46212552
136RAF10.45254954
137CSNK1A10.44950687
138NEK20.43468323
139KSR20.43395926
140PRKACA0.42865464
141DYRK20.42756722
142CAMK1G0.40543663
143PIM10.40327944
144CDC42BPA0.38752553
145PIM20.37778333
146ALK0.37279190
147DYRK30.36595166
148JAK10.35326896
149CSNK2A20.35077164
150PRKCA0.34060366
151MAP3K90.33886725
152GSK3A0.33680946
153PRKACB0.32855955
154AKT20.32332063
155CSNK1D0.32210040
156ADRBK10.31741339
157PRKCI0.31687476
158EIF2AK20.31314977
159NEK10.30343414
160BCKDK0.29057381
161CDK50.27972091
162GRK60.27877192
163MAP2K20.27849212
164MAP3K120.27795248
165CAMK2G0.27745338
166CDK20.27681192
167PRKCZ0.26600396
168FGFR10.26252625
169MAPKAPK30.26162766
170AKT30.26122913
171STK160.25785385
172CSNK1E0.25751420
173ROCK10.24470175
174PLK30.24164833
175CHEK20.23957228
176PRKG20.23575307
177SYK0.23278158
178EGFR0.22902020
179ATR0.22268406
180STK390.20550564

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030106.97018379
2Maturity onset diabetes of the young_Homo sapiens_hsa049506.70781320
3RNA polymerase_Homo sapiens_hsa030203.93663573
4Proteasome_Homo sapiens_hsa030503.11376149
5DNA replication_Homo sapiens_hsa030303.11007347
6Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.91575389
7Insulin secretion_Homo sapiens_hsa049112.76121210
8Mismatch repair_Homo sapiens_hsa034302.68877104
9Spliceosome_Homo sapiens_hsa030402.67101672
10Butanoate metabolism_Homo sapiens_hsa006502.62663148
11Non-homologous end-joining_Homo sapiens_hsa034502.44625952
12Parkinsons disease_Homo sapiens_hsa050122.42842369
13Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.40974760
14Pyrimidine metabolism_Homo sapiens_hsa002402.30337135
15Nucleotide excision repair_Homo sapiens_hsa034202.29874227
16Sulfur metabolism_Homo sapiens_hsa009202.25462562
17Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.19716656
18Selenocompound metabolism_Homo sapiens_hsa004502.16356392
19Collecting duct acid secretion_Homo sapiens_hsa049662.15790844
20Base excision repair_Homo sapiens_hsa034101.96163345
21Oxidative phosphorylation_Homo sapiens_hsa001901.93449138
22Type I diabetes mellitus_Homo sapiens_hsa049401.89804594
23Cell cycle_Homo sapiens_hsa041101.76488638
24Cyanoamino acid metabolism_Homo sapiens_hsa004601.74920303
25Vitamin B6 metabolism_Homo sapiens_hsa007501.72231777
26RNA transport_Homo sapiens_hsa030131.71346027
27Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.69849597
28Huntingtons disease_Homo sapiens_hsa050161.69725065
29Biosynthesis of amino acids_Homo sapiens_hsa012301.68853126
30Cardiac muscle contraction_Homo sapiens_hsa042601.67276204
31Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.64914380
32Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.63929416
33Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.62244542
34Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.60637236
35Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.59478077
36Synaptic vesicle cycle_Homo sapiens_hsa047211.50633680
37Carbon metabolism_Homo sapiens_hsa012001.48535120
38Galactose metabolism_Homo sapiens_hsa000521.47515852
39Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.46974034
40Ether lipid metabolism_Homo sapiens_hsa005651.46283699
41Homologous recombination_Homo sapiens_hsa034401.42093311
42RNA degradation_Homo sapiens_hsa030181.37227376
43Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.35019583
44Phototransduction_Homo sapiens_hsa047441.34776599
45Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.34447418
46One carbon pool by folate_Homo sapiens_hsa006701.32899741
47Circadian rhythm_Homo sapiens_hsa047101.31896723
48Vibrio cholerae infection_Homo sapiens_hsa051101.29762516
49Basal cell carcinoma_Homo sapiens_hsa052171.29428007
50Tryptophan metabolism_Homo sapiens_hsa003801.26022142
51Type II diabetes mellitus_Homo sapiens_hsa049301.25583359
52Purine metabolism_Homo sapiens_hsa002301.24066832
53Fatty acid elongation_Homo sapiens_hsa000621.23536728
54Fructose and mannose metabolism_Homo sapiens_hsa000511.22519604
55Pentose phosphate pathway_Homo sapiens_hsa000301.22141692
56Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.21815555
57TGF-beta signaling pathway_Homo sapiens_hsa043501.15117874
58Sphingolipid metabolism_Homo sapiens_hsa006001.14887516
59Renin secretion_Homo sapiens_hsa049241.13979347
60Alzheimers disease_Homo sapiens_hsa050101.13166611
61Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.11797892
62Circadian entrainment_Homo sapiens_hsa047131.11692242
63Amphetamine addiction_Homo sapiens_hsa050311.11327841
64Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.07919069
65Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.07295568
66Glycosaminoglycan degradation_Homo sapiens_hsa005311.04030425
67Dopaminergic synapse_Homo sapiens_hsa047281.03797391
68GABAergic synapse_Homo sapiens_hsa047271.02807256
69p53 signaling pathway_Homo sapiens_hsa041151.01882587
70Peroxisome_Homo sapiens_hsa041461.01137979
71Serotonergic synapse_Homo sapiens_hsa047260.99396810
72Hedgehog signaling pathway_Homo sapiens_hsa043400.98951387
73Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.97819681
74Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.97480018
75SNARE interactions in vesicular transport_Homo sapiens_hsa041300.95939218
76Regulation of autophagy_Homo sapiens_hsa041400.92604497
77Cocaine addiction_Homo sapiens_hsa050300.92514881
78Protein export_Homo sapiens_hsa030600.88751570
79HIF-1 signaling pathway_Homo sapiens_hsa040660.88362012
802-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.87139350
81Pancreatic secretion_Homo sapiens_hsa049720.85443604
82Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.85377818
83beta-Alanine metabolism_Homo sapiens_hsa004100.84703880
84Central carbon metabolism in cancer_Homo sapiens_hsa052300.83104865
85Long-term depression_Homo sapiens_hsa047300.82809026
86Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.82695245
87Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.82429130
88Systemic lupus erythematosus_Homo sapiens_hsa053220.82280548
89Epstein-Barr virus infection_Homo sapiens_hsa051690.82232238
90Glutamatergic synapse_Homo sapiens_hsa047240.82025847
91Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.81673267
92Mineral absorption_Homo sapiens_hsa049780.80614386
93Tight junction_Homo sapiens_hsa045300.79727244
94Arginine biosynthesis_Homo sapiens_hsa002200.79395819
95Hippo signaling pathway_Homo sapiens_hsa043900.78328565
96ABC transporters_Homo sapiens_hsa020100.77052028
97Oocyte meiosis_Homo sapiens_hsa041140.76691601
98Cysteine and methionine metabolism_Homo sapiens_hsa002700.75967637
99Nicotine addiction_Homo sapiens_hsa050330.73797767
100Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.71687853
101Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.70681985
102Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.70386490
103Lysosome_Homo sapiens_hsa041420.69835809
104Fanconi anemia pathway_Homo sapiens_hsa034600.69442829
105Other glycan degradation_Homo sapiens_hsa005110.69365614
106Morphine addiction_Homo sapiens_hsa050320.67678494
107Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.66095856
108mRNA surveillance pathway_Homo sapiens_hsa030150.65779726
109Basal transcription factors_Homo sapiens_hsa030220.63855003
110Fatty acid metabolism_Homo sapiens_hsa012120.60085959
111Salivary secretion_Homo sapiens_hsa049700.59442025
112Acute myeloid leukemia_Homo sapiens_hsa052210.59404707
113Wnt signaling pathway_Homo sapiens_hsa043100.58374008
114Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.58343705
115Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.56724946
116Ovarian steroidogenesis_Homo sapiens_hsa049130.55016292
117Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.54587541
118Dorso-ventral axis formation_Homo sapiens_hsa043200.54442230
119Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.54080100
120Nitrogen metabolism_Homo sapiens_hsa009100.53746841
121Thyroid hormone synthesis_Homo sapiens_hsa049180.53607058
122cAMP signaling pathway_Homo sapiens_hsa040240.52262168
123Arachidonic acid metabolism_Homo sapiens_hsa005900.52104058
124Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.51209394
125Alcoholism_Homo sapiens_hsa050340.50989466
126Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.49064311
127Taste transduction_Homo sapiens_hsa047420.48034781
128Carbohydrate digestion and absorption_Homo sapiens_hsa049730.47386286
129Glutathione metabolism_Homo sapiens_hsa004800.45501842
130Glycerophospholipid metabolism_Homo sapiens_hsa005640.45195496
131Thyroid cancer_Homo sapiens_hsa052160.44355874
132Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.44349241
133HTLV-I infection_Homo sapiens_hsa051660.43540513
134Gastric acid secretion_Homo sapiens_hsa049710.42336409
135Aldosterone synthesis and secretion_Homo sapiens_hsa049250.41554742
136Caffeine metabolism_Homo sapiens_hsa002320.41468500
137Phenylalanine metabolism_Homo sapiens_hsa003600.41394313
138Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.41207094
139Drug metabolism - other enzymes_Homo sapiens_hsa009830.41098662
140Chemical carcinogenesis_Homo sapiens_hsa052040.41009728
141Pyruvate metabolism_Homo sapiens_hsa006200.40897567
142Metabolic pathways_Homo sapiens_hsa011000.40747155
143Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.40267971
144Fatty acid degradation_Homo sapiens_hsa000710.39677324
145Shigellosis_Homo sapiens_hsa051310.36011389
146Starch and sucrose metabolism_Homo sapiens_hsa005000.34520332
147Tyrosine metabolism_Homo sapiens_hsa003500.34139899
148Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.33922069
149Proteoglycans in cancer_Homo sapiens_hsa052050.32796953
150Pathways in cancer_Homo sapiens_hsa052000.31906534
151Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.31026631
152Regulation of actin cytoskeleton_Homo sapiens_hsa048100.28952379
153Folate biosynthesis_Homo sapiens_hsa007900.27995502
154Leukocyte transendothelial migration_Homo sapiens_hsa046700.25943768
155Neurotrophin signaling pathway_Homo sapiens_hsa047220.25130166
156Propanoate metabolism_Homo sapiens_hsa006400.24101477
157Melanogenesis_Homo sapiens_hsa049160.23923596
158Dilated cardiomyopathy_Homo sapiens_hsa054140.20991017
159Glucagon signaling pathway_Homo sapiens_hsa049220.20061034
160Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.19959514
161Linoleic acid metabolism_Homo sapiens_hsa005910.19348288
162Melanoma_Homo sapiens_hsa052180.16240924
163Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.15894227
164N-Glycan biosynthesis_Homo sapiens_hsa005100.15797893
165Viral carcinogenesis_Homo sapiens_hsa052030.14507926
166alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.14200254
167Small cell lung cancer_Homo sapiens_hsa052220.12558063
168Pentose and glucuronate interconversions_Homo sapiens_hsa000400.11981554
169Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.11573472
170Retinol metabolism_Homo sapiens_hsa008300.11462257
171Fat digestion and absorption_Homo sapiens_hsa049750.11240996
172Chronic myeloid leukemia_Homo sapiens_hsa052200.09897676
173Endometrial cancer_Homo sapiens_hsa052130.08527593
174Primary bile acid biosynthesis_Homo sapiens_hsa001200.08236544
175MicroRNAs in cancer_Homo sapiens_hsa052060.08060357

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