NR0B1

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 protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1daunorubicin metabolic process (GO:0044597)8.24236138
2polyketide metabolic process (GO:0030638)8.24236138
3doxorubicin metabolic process (GO:0044598)8.24236138
4aminoglycoside antibiotic metabolic process (GO:0030647)7.26808305
5regulation of posttranscriptional gene silencing (GO:0060147)6.06311531
6regulation of gene silencing by miRNA (GO:0060964)6.06311531
7regulation of gene silencing by RNA (GO:0060966)6.06311531
8cellular response to follicle-stimulating hormone stimulus (GO:0071372)5.68492678
9epithelial cell fate commitment (GO:0072148)5.59520290
10negative regulation of hormone metabolic process (GO:0032351)5.40559767
11regulation of type B pancreatic cell apoptotic process (GO:2000674)5.31997512
12DNA replication-dependent nucleosome assembly (GO:0006335)4.86478727
13DNA replication-dependent nucleosome organization (GO:0034723)4.86478727
14nuclear pore organization (GO:0006999)4.82238464
15negative regulation of hormone biosynthetic process (GO:0032353)4.81301917
16somatic diversification of immune receptors via somatic mutation (GO:0002566)4.76484505
17somatic hypermutation of immunoglobulin genes (GO:0016446)4.76484505
18androgen biosynthetic process (GO:0006702)4.73236449
19DNA replication initiation (GO:0006270)4.69042541
20cellular response to gonadotropin stimulus (GO:0071371)4.66378373
21response to follicle-stimulating hormone (GO:0032354)4.63813746
22regulation of helicase activity (GO:0051095)4.58478327
23progesterone metabolic process (GO:0042448)4.54465253
24regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022354.47079683
25nuclear pore complex assembly (GO:0051292)4.46709042
26signal transduction involved in regulation of gene expression (GO:0023019)4.46702121
27formation of translation preinitiation complex (GO:0001731)4.40916250
28regulation of male gonad development (GO:2000018)4.34166051
29protein localization to kinetochore (GO:0034501)4.34037698
30DNA unwinding involved in DNA replication (GO:0006268)4.29251894
31endocrine pancreas development (GO:0031018)4.25747682
32folic acid-containing compound biosynthetic process (GO:0009396)4.25009887
33histone H4-K12 acetylation (GO:0043983)4.21917616
34DNA strand elongation involved in DNA replication (GO:0006271)4.13094485
35glandular epithelial cell differentiation (GO:0002067)4.11627897
36nucleobase biosynthetic process (GO:0046112)4.07171418
37IMP biosynthetic process (GO:0006188)4.04724560
38determination of adult lifespan (GO:0008340)4.03180162
39mitotic nuclear envelope disassembly (GO:0007077)4.02508928
40mitotic sister chromatid segregation (GO:0000070)3.95085548
41mitotic metaphase plate congression (GO:0007080)3.90120118
42DNA strand elongation (GO:0022616)3.89679606
43regulation of nuclear cell cycle DNA replication (GO:0033262)3.89053405
44ribosome biogenesis (GO:0042254)3.88383151
45glucocorticoid biosynthetic process (GO:0006704)3.85931994
46positive regulation of macroautophagy (GO:0016239)3.85864484
47histone arginine methylation (GO:0034969)3.85350556
48DNA replication checkpoint (GO:0000076)3.81857408
49purine nucleobase biosynthetic process (GO:0009113)3.81510595
50telomere maintenance via semi-conservative replication (GO:0032201)3.76670747
51heterochromatin organization (GO:0070828)3.76527631
52membrane disassembly (GO:0030397)3.74335147
53nuclear envelope disassembly (GO:0051081)3.74335147
54DNA duplex unwinding (GO:0032508)3.71491076
55C21-steroid hormone metabolic process (GO:0008207)3.71168407
56DNA geometric change (GO:0032392)3.70773554
57positive regulation of SMAD protein import into nucleus (GO:0060391)3.69852072
58positive regulation of glycolytic process (GO:0045821)3.68855675
59glycoside metabolic process (GO:0016137)3.63717543
60regulation of histone H3-K9 methylation (GO:0051570)3.63553833
61positive regulation of hormone biosynthetic process (GO:0046886)3.63029481
62response to gonadotropin (GO:0034698)3.61499788
63anterior/posterior axis specification, embryo (GO:0008595)3.61480922
64maturation of SSU-rRNA (GO:0030490)3.60649130
65regulation of steroid hormone biosynthetic process (GO:0090030)3.59597155
66establishment of apical/basal cell polarity (GO:0035089)3.57177047
67primary alcohol catabolic process (GO:0034310)3.54279252
68regulation of translational fidelity (GO:0006450)3.54189338
69pre-miRNA processing (GO:0031054)3.49017371
70regulation of glucokinase activity (GO:0033131)3.48712784
71regulation of hexokinase activity (GO:1903299)3.48712784
72regulation of gene silencing (GO:0060968)3.47639441
73protein localization to chromosome, centromeric region (GO:0071459)3.47210226
74C21-steroid hormone biosynthetic process (GO:0006700)3.46214584
75IMP metabolic process (GO:0046040)3.45886488
76ribosome assembly (GO:0042255)3.45735788
77histone H4-K8 acetylation (GO:0043982)3.43457734
78histone H4-K5 acetylation (GO:0043981)3.43457734
79response to pheromone (GO:0019236)3.42349298
80sister chromatid segregation (GO:0000819)3.41515356
81regulation of telomere maintenance via telomerase (GO:0032210)3.41247653
82negative regulation of histone methylation (GO:0031061)3.40337406
83negative regulation of gluconeogenesis (GO:0045721)3.35571072
84ribonucleoprotein complex biogenesis (GO:0022613)3.34567560
85metaphase plate congression (GO:0051310)3.31956658
86pore complex assembly (GO:0046931)3.31289903
87inositol phosphate catabolic process (GO:0071545)3.30955725
88detection of calcium ion (GO:0005513)3.30705329
89chemosensory behavior (GO:0007635)3.28625451
90protein K6-linked ubiquitination (GO:0085020)3.27207653
91negative regulation of cytosolic calcium ion concentration (GO:0051481)3.26372429
92insulin secretion (GO:0030073)3.22234425
93paraxial mesoderm development (GO:0048339)3.21806491
94negative regulation of gene silencing (GO:0060969)3.21042794
95adrenergic receptor signaling pathway (GO:0071875)3.20470362
96inositol phosphate dephosphorylation (GO:0046855)3.19912754
97phosphorylated carbohydrate dephosphorylation (GO:0046838)3.19912754
98telomere maintenance via recombination (GO:0000722)3.18306865
99type B pancreatic cell development (GO:0003323)3.16212775
100dorsal/ventral neural tube patterning (GO:0021904)3.14306675
101nucleotide-excision repair, DNA gap filling (GO:0006297)3.13482998
102telomere maintenance via telomere lengthening (GO:0010833)3.13133618
103mitotic recombination (GO:0006312)3.13045088
104positive regulation of protein autophosphorylation (GO:0031954)3.12798040
105plasma membrane fusion (GO:0045026)3.12011145
106positive regulation of insulin secretion (GO:0032024)3.11981659
107negative regulation of androgen receptor signaling pathway (GO:0060766)3.10038288
108chromatin assembly (GO:0031497)3.09019450
109rRNA modification (GO:0000154)3.08505444
110positive regulation of chromosome segregation (GO:0051984)3.07662027
111peptidyl-arginine omega-N-methylation (GO:0035247)3.07602125
112mitotic chromosome condensation (GO:0007076)3.06101483
113nodal signaling pathway (GO:0038092)3.04365578
114chromatin remodeling at centromere (GO:0031055)3.04324447
115proline biosynthetic process (GO:0006561)3.03635518
116establishment of monopolar cell polarity (GO:0061162)3.02763782
117establishment or maintenance of monopolar cell polarity (GO:0061339)3.02763782
118establishment of protein localization to mitochondrial membrane (GO:0090151)3.02639152
119maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)3.02500174
120regulation of double-strand break repair via homologous recombination (GO:0010569)3.02440350
121regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.02075145
122mismatch repair (GO:0006298)3.02045609
123negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)3.01601196
124regulation of spindle organization (GO:0090224)3.01164331
125regulation of glucocorticoid metabolic process (GO:0031943)3.00119406
126positive regulation of male gonad development (GO:2000020)2.99742305
127rRNA processing (GO:0006364)2.99410818
128regulation of centrosome cycle (GO:0046605)2.99214181
129embryonic process involved in female pregnancy (GO:0060136)2.98771966
130fat-soluble vitamin catabolic process (GO:0042363)2.98490529
131vitamin catabolic process (GO:0009111)2.98490529
132regulation of SMAD protein import into nucleus (GO:0060390)2.97942884
133negative regulation of glycogen metabolic process (GO:0070874)2.97873065
134DNA deamination (GO:0045006)2.97688723
135regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.97216507
136* Leydig cell differentiation (GO:0033327)2.95856305
137regulation of mitotic spindle organization (GO:0060236)2.94538782
138transcription from mitochondrial promoter (GO:0006390)2.94284428
139water-soluble vitamin biosynthetic process (GO:0042364)2.90532975
140replication fork processing (GO:0031297)2.90375900
141embryonic retina morphogenesis in camera-type eye (GO:0060059)2.89911014
142rRNA metabolic process (GO:0016072)2.89389280
143positive regulation of peptide hormone secretion (GO:0090277)2.89316398
144benzene-containing compound metabolic process (GO:0042537)2.89312698
145nitric oxide mediated signal transduction (GO:0007263)2.88188069
146establishment of integrated proviral latency (GO:0075713)2.87230640
147ribosomal small subunit biogenesis (GO:0042274)2.86231637
148meiotic chromosome segregation (GO:0045132)2.86212740
149DNA conformation change (GO:0071103)2.85704068
150peptide hormone processing (GO:0016486)2.85508995
151kinetochore organization (GO:0051383)2.85226260
152establishment of chromosome localization (GO:0051303)2.84856480
153mitochondrial DNA metabolic process (GO:0032042)2.84723529
154hormone biosynthetic process (GO:0042446)2.84701877
155regulation of translational termination (GO:0006449)2.84555629
156negative regulation of chromosome segregation (GO:0051985)2.84392675
157righting reflex (GO:0060013)2.84325968
158glucocorticoid metabolic process (GO:0008211)2.83473096
159pseudouridine synthesis (GO:0001522)2.83098985
160regulation of hippo signaling (GO:0035330)2.82954053
161positive regulation of peptide secretion (GO:0002793)2.81463586
162estrogen biosynthetic process (GO:0006703)2.80997148
163glycerophospholipid catabolic process (GO:0046475)2.80148477
164positive regulation of response to nutrient levels (GO:0032109)2.74586236
165positive regulation of response to extracellular stimulus (GO:0032106)2.74586236
166secondary metabolic process (GO:0019748)2.74100087
167positive regulation of hormone metabolic process (GO:0032352)2.71505563
168regulation of hormone biosynthetic process (GO:0046885)2.70104394
169L-phenylalanine metabolic process (GO:0006558)2.69021260
170erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.69021260
171embryonic foregut morphogenesis (GO:0048617)2.68974072
172mitochondrial DNA replication (GO:0006264)2.68677295
173regulation of insulin secretion (GO:0050796)2.68067578
174signal peptide processing (GO:0006465)2.65716411
175response to leptin (GO:0044321)2.65295466
176quinone metabolic process (GO:1901661)2.63940474
177positive regulation of meiosis (GO:0045836)2.58528680
178glucose 6-phosphate metabolic process (GO:0051156)2.58166656
179negative regulation of activin receptor signaling pathway (GO:0032926)2.58078069
180androgen metabolic process (GO:0008209)2.55574021
181cellular response to antibiotic (GO:0071236)2.55466243
182dendritic spine morphogenesis (GO:0060997)2.54718475
183positive regulation of glycogen biosynthetic process (GO:0045725)2.54675462
184macroautophagy (GO:0016236)2.53037570
185negative regulation of metanephros development (GO:0072217)2.51475780
186lactate metabolic process (GO:0006089)2.50632076
187response to hepatocyte growth factor (GO:0035728)2.48519247
188cellular response to hepatocyte growth factor stimulus (GO:0035729)2.48519247
189negative regulation of protein oligomerization (GO:0032460)2.47232266
190SMAD protein signal transduction (GO:0060395)2.44899365
191mesenchymal to epithelial transition (GO:0060231)2.44655063
192regulation of peptide hormone secretion (GO:0090276)2.44591305
193cellular response to cadmium ion (GO:0071276)2.44291785
194fatty acid homeostasis (GO:0055089)2.43878189
195positive regulation of steroid biosynthetic process (GO:0010893)2.43143419
196protein maturation by protein folding (GO:0022417)2.43141672
197regulation of gonadotropin secretion (GO:0032276)2.43138336
198membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.42834936

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.73427521
2FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse6.45975232
3KLF5_18264089_ChIP-ChIP_MESCs_Mouse4.06258688
4KLF4_18264089_ChIP-ChIP_MESCs_Mouse4.06258688
5KLF2_18264089_ChIP-ChIP_MESCs_Mouse4.06258688
6MYC_18555785_ChIP-Seq_MESCs_Mouse3.89874961
7SMAD1_18555785_ChIP-Seq_MESCs_Mouse3.43177010
8FOXM1_23109430_ChIP-Seq_U2OS_Human3.41391233
9MYC_19079543_ChIP-ChIP_MESCs_Mouse3.21208257
10* POU5F1_18700969_ChIP-ChIP_MESCs_Mouse3.10902836
11E2F4_17652178_ChIP-ChIP_JURKAT_Human2.97837530
12* NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.83389286
13NANOG_18555785_ChIP-Seq_MESCs_Mouse2.69950836
14MYC_19030024_ChIP-ChIP_MESCs_Mouse2.67434588
15* NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.58767146
16EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.58252602
17FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.46333186
18BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.46249561
19MYC_18358816_ChIP-ChIP_MESCs_Mouse2.42830882
20* TCF3_18692474_ChIP-Seq_MEFs_Mouse2.40020431
21ZFP57_27257070_Chip-Seq_ESCs_Mouse2.34783616
22CDX2_19796622_ChIP-Seq_MESCs_Mouse2.29846246
23POU3F2_20337985_ChIP-ChIP_501MEL_Human2.28162083
24SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.27934038
25STAT3_1855785_ChIP-Seq_MESCs_Mouse2.26962282
26POU5F1_18358816_ChIP-ChIP_MESCs_Mouse2.22200622
27* SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.21417284
28CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.19909359
29* TCF3_18692474_ChIP-Seq_MESCs_Mouse2.14776236
30MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.14406893
31POU5F1_18555785_ChIP-Seq_MESCs_Mouse2.13942761
32BMI1_23680149_ChIP-Seq_NPCS_Mouse2.11818907
33ZIC3_20872845_ChIP-ChIP_MESCs_Mouse2.10898734
34SOX2_18555785_ChIP-Seq_MESCs_Mouse2.06765270
35NELFA_20434984_ChIP-Seq_ESCs_Mouse2.04409306
36NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.02702423
37GBX2_23144817_ChIP-Seq_PC3_Human2.01845306
38ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.01339352
39SALL1_21062744_ChIP-ChIP_HESCs_Human1.92863379
40SMAD3_21741376_ChIP-Seq_HESCs_Human1.92307599
41GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.91221182
42KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.91187066
43EST1_17652178_ChIP-ChIP_JURKAT_Human1.90761209
44MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.85320812
45* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.84886682
46ETS1_20019798_ChIP-Seq_JURKAT_Human1.84807379
47KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.84749182
48* SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.83244491
49JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.81721293
50* NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.79663429
51EED_16625203_ChIP-ChIP_MESCs_Mouse1.78211347
52RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.78102286
53KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.77960766
54HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.77729697
55* NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.74291393
56XRN2_22483619_ChIP-Seq_HELA_Human1.73969443
57E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.72729724
58MYCN_18555785_ChIP-Seq_MESCs_Mouse1.72149830
59CBX2_27304074_Chip-Seq_ESCs_Mouse1.71558845
60CREB1_15753290_ChIP-ChIP_HEK293T_Human1.67528009
61AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.64430280
62PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.63387034
63EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.62781229
64CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.60396089
65ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.59728531
66POU5F1_16518401_ChIP-PET_MESCs_Mouse1.59478054
67* SOX2_18692474_ChIP-Seq_MEFs_Mouse1.59271876
68FLI1_27457419_Chip-Seq_LIVER_Mouse1.58077912
69ZNF217_24962896_ChIP-Seq_MCF-7_Human1.57107931
70SMAD3_21741376_ChIP-Seq_EPCs_Human1.56816261
71EZH2_27304074_Chip-Seq_ESCs_Mouse1.56768750
72* NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.54846571
73YY1_21170310_ChIP-Seq_MESCs_Mouse1.54628768
74PIAS1_25552417_ChIP-Seq_VCAP_Human1.54158561
75CTBP2_25329375_ChIP-Seq_LNCAP_Human1.53134826
76ESR1_15608294_ChIP-ChIP_MCF-7_Human1.51808560
77GABP_17652178_ChIP-ChIP_JURKAT_Human1.48843727
78SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.48358774
79SMAD4_21741376_ChIP-Seq_HESCs_Human1.47666159
80SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.47575607
81* SOX2_18692474_ChIP-Seq_MESCs_Mouse1.47301278
82* NANOG_18692474_ChIP-Seq_MEFs_Mouse1.47257984
83SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.47091997
84RNF2_27304074_Chip-Seq_NSC_Mouse1.46730492
85E2F1_21310950_ChIP-Seq_MCF-7_Human1.46327860
86NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.46119066
87KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.45903307
88NR3C1_23031785_ChIP-Seq_PC12_Mouse1.45856940
89HTT_18923047_ChIP-ChIP_STHdh_Human1.44693326
90* OCT4_18692474_ChIP-Seq_MEFs_Mouse1.41687732
91SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.40095020
92NANOG_21062744_ChIP-ChIP_HESCs_Human1.38985106
93PCGF2_27294783_Chip-Seq_ESCs_Mouse1.38388417
94THAP11_20581084_ChIP-Seq_MESCs_Mouse1.37814995
95* NANOG_18692474_ChIP-Seq_MESCs_Mouse1.35741070
96P300_19829295_ChIP-Seq_ESCs_Human1.35714782
97EGR1_19374776_ChIP-ChIP_THP-1_Human1.35406220
98SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.35131722
99AR_21909140_ChIP-Seq_LNCAP_Human1.35057374
100KLF4_18555785_ChIP-Seq_MESCs_Mouse1.33555047
101NANOG_18555785_Chip-Seq_ESCs_Mouse1.33064001
102EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.32952103
103* POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.29984305
104VDR_23849224_ChIP-Seq_CD4+_Human1.29752841
105SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.27780206
106TTF2_22483619_ChIP-Seq_HELA_Human1.27751153
107AR_25329375_ChIP-Seq_VCAP_Human1.26372528
108P53_22387025_ChIP-Seq_ESCs_Mouse1.25957172
109DCP1A_22483619_ChIP-Seq_HELA_Human1.24935901
110NRF2_20460467_ChIP-Seq_MEFs_Mouse1.23364110
111NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.23364110
112ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.23240719
113TP53_22573176_ChIP-Seq_HFKS_Human1.22640502
114TOP2B_26459242_ChIP-Seq_MCF-7_Human1.22520166
115TP53_18474530_ChIP-ChIP_U2OS_Human1.21297278
116GATA4_25053715_ChIP-Seq_YYC3_Human1.20524345
117TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.20349803
118FOXP3_21729870_ChIP-Seq_TREG_Human1.19878918
119OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19467674
120CBP_20019798_ChIP-Seq_JUKART_Human1.19423047
121IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.19423047
122SMAD4_21741376_ChIP-Seq_EPCs_Human1.19192907
123MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.18723626
124SMAD4_21799915_ChIP-Seq_A2780_Human1.18393477
125PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.18279201
126GABP_19822575_ChIP-Seq_HepG2_Human1.18240318
127ZFX_18555785_ChIP-Seq_MESCs_Mouse1.17853153
128KAP1_27257070_Chip-Seq_ESCs_Mouse1.17489377
129PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.16743189
130* REST_19997604_ChIP-ChIP_NEURONS_Mouse1.16466861
131RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.16019081
132SUZ12_18555785_Chip-Seq_ESCs_Mouse1.15825546
133FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.15522432
134* TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.15139548
135YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.13853661
136CMYC_18555785_Chip-Seq_ESCs_Mouse1.12477028
137SOX2_20726797_ChIP-Seq_SW620_Human1.12165091
138STAT3_18555785_Chip-Seq_ESCs_Mouse1.11300427
139PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.11239092
140KDM5A_27292631_Chip-Seq_BREAST_Human1.10921021
141SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.09946024
142MYC_22102868_ChIP-Seq_BL_Human1.09581963
143CDX2_22108803_ChIP-Seq_LS180_Human1.09476611
144TP63_19390658_ChIP-ChIP_HaCaT_Human1.09100419
145SOX2_18555785_Chip-Seq_ESCs_Mouse1.08847410
146EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.07470696
147EZH2_27294783_Chip-Seq_NPCs_Mouse1.07470652
148STAT3_23295773_ChIP-Seq_U87_Human1.07301472
149SALL4_18804426_ChIP-ChIP_XEN_Mouse1.06098787
150ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.05046914
151CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.04687579
152PADI4_21655091_ChIP-ChIP_MCF-7_Human1.04608129
153MTF2_20144788_ChIP-Seq_MESCs_Mouse1.03732945
154SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.03176686
155P300_18555785_Chip-Seq_ESCs_Mouse1.02917640
156* NANOG_16518401_ChIP-PET_MESCs_Mouse1.02481926
157* POU5F1_18347094_ChIP-ChIP_MESCs_Mouse1.01934665
158SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.01905864
159CTCF_18555785_Chip-Seq_ESCs_Mouse1.01841083
160* SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.01227429
161PU1_27457419_Chip-Seq_LIVER_Mouse1.01148687
162EP300_21415370_ChIP-Seq_HL-1_Mouse1.00746456
163TCF4_22108803_ChIP-Seq_LS180_Human1.00333047
164E2F1_18555785_Chip-Seq_ESCs_Mouse1.00295995
165CJUN_26792858_Chip-Seq_BT549_Human0.99087306
166AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.99043866
167JARID2_20064375_ChIP-Seq_MESCs_Mouse0.98833681
168PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.97563238
169UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.97562095
170NMYC_18555785_Chip-Seq_ESCs_Mouse0.97153019
171PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.96945148
172ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.96859385
173DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.96806682
174EOMES_21245162_ChIP-Seq_HESCs_Human0.96576623
175IGF1R_20145208_ChIP-Seq_DFB_Human0.96297091
176HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human0.95826398
177TFEB_21752829_ChIP-Seq_HELA_Human0.95674353
178ER_23166858_ChIP-Seq_MCF-7_Human0.95270777
179MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.95162176
180TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.94432877
181FOXA1_25552417_ChIP-Seq_VCAP_Human0.94355589
182ZFX_18555785_Chip-Seq_ESCs_Mouse0.94231780
183SUZ12_27294783_Chip-Seq_NPCs_Mouse0.93319712
184FOXM1_26456572_ChIP-Seq_MCF-7_Human0.93276845
185CIITA_25753668_ChIP-Seq_RAJI_Human0.92172818
186SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.92102082
187TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.91044979
188HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.90300203
189ZFP281_18757296_ChIP-ChIP_E14_Mouse0.90034600
190RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.89605558
191ZNF263_19887448_ChIP-Seq_K562_Human0.87115501
192ELK1_19687146_ChIP-ChIP_HELA_Human0.84961368
193NANOG_16153702_ChIP-ChIP_HESCs_Human0.83515853
194CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.82441820

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008057_abnormal_DNA_replication4.97518344
2MP0002909_abnormal_adrenal_gland4.45649131
3MP0003195_calcinosis4.44981828
4MP0005379_endocrine/exocrine_gland_phen4.35734922
5MP0004957_abnormal_blastocyst_morpholog4.31664510
6MP0010094_abnormal_chromosome_stability4.01022520
7MP0003693_abnormal_embryo_hatching4.00501291
8MP0003111_abnormal_nucleus_morphology3.86601174
9MP0003122_maternal_imprinting3.84039310
10MP0002163_abnormal_gland_morphology3.63947373
11MP0009780_abnormal_chondrocyte_physiolo3.44767673
12MP0003077_abnormal_cell_cycle3.39935519
13MP0003806_abnormal_nucleotide_metabolis3.28158928
14MP0004133_heterotaxia3.25302072
15MP0010352_gastrointestinal_tract_polyps2.96756587
16MP0008058_abnormal_DNA_repair2.95701589
17MP0002653_abnormal_ependyma_morphology2.79780302
18MP0003283_abnormal_digestive_organ2.79439807
19MP0002837_dystrophic_cardiac_calcinosis2.67624357
20MP0003123_paternal_imprinting2.55377399
21MP0010234_abnormal_vibrissa_follicle2.53634941
22MP0001944_abnormal_pancreas_morphology2.41134672
23MP0008932_abnormal_embryonic_tissue2.34449165
24MP0001730_embryonic_growth_arrest2.32928094
25MP0000350_abnormal_cell_proliferation2.29260530
26MP0003786_premature_aging2.14269672
27MP0001661_extended_life_span2.13763426
28MP0003890_abnormal_embryonic-extraembry2.07972475
29MP0008007_abnormal_cellular_replicative2.00233652
30MP0002084_abnormal_developmental_patter2.00138396
31MP0001672_abnormal_embryogenesis/_devel1.99509519
32MP0005380_embryogenesis_phenotype1.99509519
33MP0002085_abnormal_embryonic_tissue1.98531149
34MP0005220_abnormal_exocrine_pancreas1.94072501
35MP0003172_abnormal_lysosome_physiology1.92992482
36MP0003119_abnormal_digestive_system1.91541176
37MP0002277_abnormal_respiratory_mucosa1.90924438
38MP0010307_abnormal_tumor_latency1.89599186
39MP0003941_abnormal_skin_development1.89164668
40MP0003136_yellow_coat_color1.85478365
41MP0002693_abnormal_pancreas_physiology1.85182767
42MP0000013_abnormal_adipose_tissue1.84628160
43* MP0000639_abnormal_adrenal_gland1.82863717
44MP0001697_abnormal_embryo_size1.82134009
45MP0002086_abnormal_extraembryonic_tissu1.80754954
46MP0004197_abnormal_fetal_growth/weight/1.78801849
47MP0002254_reproductive_system_inflammat1.71196036
48MP0004270_analgesia1.70452360
49MP0008877_abnormal_DNA_methylation1.69513861
50MP0003984_embryonic_growth_retardation1.67213047
51MP0010030_abnormal_orbit_morphology1.66788446
52MP0002088_abnormal_embryonic_growth/wei1.64392790
53MP0003718_maternal_effect1.62463830
54MP0004019_abnormal_vitamin_homeostasis1.61739902
55MP0001293_anophthalmia1.61679645
56MP0006292_abnormal_olfactory_placode1.61566378
57MP0002080_prenatal_lethality1.58432721
58MP0000462_abnormal_digestive_system1.57893212
59MP0009046_muscle_twitch1.55664886
60MP0005076_abnormal_cell_differentiation1.52777697
61MP0001984_abnormal_olfaction1.42153829
62MP0003705_abnormal_hypodermis_morpholog1.41999417
63MP0001849_ear_inflammation1.41715160
64MP0003121_genomic_imprinting1.41653719
65MP0002139_abnormal_hepatobiliary_system1.40777210
66MP0002078_abnormal_glucose_homeostasis1.40516659
67MP0003315_abnormal_perineum_morphology1.35355111
68* MP0001145_abnormal_male_reproductive1.31672805
69MP0005266_abnormal_metabolism1.31573615
70* MP0002210_abnormal_sex_determination1.30925630
71MP0000516_abnormal_urinary_system1.26613356
72MP0005367_renal/urinary_system_phenotyp1.26613356
73MP0008875_abnormal_xenobiotic_pharmacok1.26008249
74MP0004264_abnormal_extraembryonic_tissu1.22450533
75MP0003953_abnormal_hormone_level1.19767100
76MP0005332_abnormal_amino_acid1.19159669
77MP0000313_abnormal_cell_death1.18865831
78MP0003787_abnormal_imprinting1.18146621
79MP0003567_abnormal_fetal_cardiomyocyte1.16854793
80MP0001756_abnormal_urination1.11972352
81MP0005646_abnormal_pituitary_gland1.10811828
82MP0000490_abnormal_crypts_of1.10782594
83MP0005448_abnormal_energy_balance1.09502629
84MP0000631_abnormal_neuroendocrine_gland1.09233354
85MP0002102_abnormal_ear_morphology1.09002964
86MP0005645_abnormal_hypothalamus_physiol1.07215039
87MP0005636_abnormal_mineral_homeostasis1.05086754
88MP0001919_abnormal_reproductive_system1.04555279
89* MP0001929_abnormal_gametogenesis1.03111447
90MP0006036_abnormal_mitochondrial_physio0.99338519
91* MP0002019_abnormal_tumor_incidence0.99165390
92MP0002111_abnormal_tail_morphology0.99001725
93* MP0000653_abnormal_sex_gland0.97662246
94MP0002249_abnormal_larynx_morphology0.96715279
95MP0003566_abnormal_cell_adhesion0.96502736
96MP0008004_abnormal_stomach_pH0.95873739
97MP0004147_increased_porphyrin_level0.95034970
98MP0002295_abnormal_pulmonary_circulatio0.93910246
99MP0002928_abnormal_bile_duct0.93762885
100MP0004085_abnormal_heartbeat0.92875476
101MP0003943_abnormal_hepatobiliary_system0.92340292
102MP0010329_abnormal_lipoprotein_level0.90823278
103MP0005023_abnormal_wound_healing0.90812570
104MP0002876_abnormal_thyroid_physiology0.90482010
105MP0001765_abnormal_ion_homeostasis0.90036964
106MP0003011_delayed_dark_adaptation0.88059511
107MP0005501_abnormal_skin_physiology0.86852940
108MP0001286_abnormal_eye_development0.86501008
109MP0000371_diluted_coat_color0.86204157
110MP0002332_abnormal_exercise_endurance0.84500924
111MP0002160_abnormal_reproductive_system0.83800268
112MP0001485_abnormal_pinna_reflex0.83743565
113MP0002090_abnormal_vision0.83360440
114MP0008872_abnormal_physiological_respon0.82822582
115MP0002127_abnormal_cardiovascular_syste0.81744600
116MP0003656_abnormal_erythrocyte_physiolo0.81670252
117MP0003186_abnormal_redox_activity0.80940400
118MP0008995_early_reproductive_senescence0.80683418
119MP0003861_abnormal_nervous_system0.80556555
120MP0002092_abnormal_eye_morphology0.80380250
121MP0010368_abnormal_lymphatic_system0.79985185
122MP0010678_abnormal_skin_adnexa0.78697017
123MP0001486_abnormal_startle_reflex0.77191535
124MP0009703_decreased_birth_body0.76872159
125MP0002734_abnormal_mechanical_nocicepti0.76673831
126MP0000750_abnormal_muscle_regeneration0.76596972
127MP0000358_abnormal_cell_content/0.76093319
128MP0004510_myositis0.75668837
129MP0009278_abnormal_bone_marrow0.75449566
130* MP0003936_abnormal_reproductive_system0.75078946
131MP0002938_white_spotting0.74833564
132MP0002269_muscular_atrophy0.74830250
133MP0002229_neurodegeneration0.74630817
134MP0000537_abnormal_urethra_morphology0.74509216
135MP0004233_abnormal_muscle_weight0.74106068
136MP0000432_abnormal_head_morphology0.72687735
137MP0006035_abnormal_mitochondrial_morpho0.72599704
138* MP0003698_abnormal_male_reproductive0.72356769
139MP0002697_abnormal_eye_size0.72104366
140MP0002796_impaired_skin_barrier0.71823838
141MP0009643_abnormal_urine_homeostasis0.71800489
142MP0004885_abnormal_endolymph0.71782836
143MP0005187_abnormal_penis_morphology0.71727457
144MP0002638_abnormal_pupillary_reflex0.71589574
145MP0005389_reproductive_system_phenotype0.71550966
146MP0005384_cellular_phenotype0.71163312
147MP0001764_abnormal_homeostasis0.70734482
148MP0004134_abnormal_chest_morphology0.70350734
149MP0002075_abnormal_coat/hair_pigmentati0.69441760
150MP0006072_abnormal_retinal_apoptosis0.68288602
151MP0002272_abnormal_nervous_system0.68187255
152MP0008770_decreased_survivor_rate0.67938939
153MP0006054_spinal_hemorrhage0.67402849
154MP0005647_abnormal_sex_gland0.67100246
155MP0005623_abnormal_meninges_morphology0.65932714
156MP0003252_abnormal_bile_duct0.65834306
157MP0009745_abnormal_behavioral_response0.65643387
158MP0003633_abnormal_nervous_system0.65631681
159MP0000003_abnormal_adipose_tissue0.65621766
160MP0003755_abnormal_palate_morphology0.65304490
161MP0001348_abnormal_lacrimal_gland0.65070393
162MP0001727_abnormal_embryo_implantation0.64786103
163MP0009053_abnormal_anal_canal0.64758404
164MP0005621_abnormal_cell_physiology0.64734138
165MP0002557_abnormal_social/conspecific_i0.64719342
166MP0003937_abnormal_limbs/digits/tail_de0.63964539
167MP0005452_abnormal_adipose_tissue0.62557123
168MP0005365_abnormal_bile_salt0.62344092
169* MP0002161_abnormal_fertility/fecundity0.60793737
170MP0002925_abnormal_cardiovascular_devel0.60608391
171MP0002751_abnormal_autonomic_nervous0.59884957
172* MP0002118_abnormal_lipid_homeostasis0.59734305
173MP0002114_abnormal_axial_skeleton0.59708552
174MP0005075_abnormal_melanosome_morpholog0.58712772
175MP0000477_abnormal_intestine_morphology0.58078991
176MP0002168_other_aberrant_phenotype0.57709363
177MP0000230_abnormal_systemic_arterial0.57655584
178MP0000470_abnormal_stomach_morphology0.57588442
179MP0005395_other_phenotype0.57504626
180MP0005535_abnormal_body_temperature0.57352387
181MP0002184_abnormal_innervation0.56987647

Predicted human phenotypes

RankGene SetZ-score
1Hypoglycemic seizures (HP:0002173)6.84690600
2Hyperinsulinemic hypoglycemia (HP:0000825)5.87737122
3* Abnormal sex determination (HP:0012244)5.83521552
4* Sex reversal (HP:0012245)5.83521552
5Ependymoma (HP:0002888)5.79354859
6Hypoglycemic coma (HP:0001325)5.58981592
7Hyperglycemia (HP:0003074)5.16373452
8Symptomatic seizures (HP:0011145)4.60053121
9Breast hypoplasia (HP:0003187)4.32945221
10Abnormality of the labia minora (HP:0012880)4.29737867
11Abnormality of the astrocytes (HP:0100707)4.23098662
12Astrocytoma (HP:0009592)4.23098662
13Supernumerary spleens (HP:0009799)4.17043217
14Birth length less than 3rd percentile (HP:0003561)4.16628511
15Large for gestational age (HP:0001520)4.09466029
16Abnormality of endocrine pancreas physiology (HP:0012093)4.04950894
17Abnormality of the pancreatic islet cells (HP:0006476)4.04950894
18Ketoacidosis (HP:0001993)3.98704338
19Medulloblastoma (HP:0002885)3.97879048
20Abnormality of aromatic amino acid family metabolism (HP:0004338)3.94207389
21Absent radius (HP:0003974)3.85919262
22Aplasia/hypoplasia of the humerus (HP:0006507)3.85598292
23* Testicular neoplasm (HP:0010788)3.81618970
24Neoplasm of the oral cavity (HP:0100649)3.73222070
25Abnormal pancreas size (HP:0012094)3.71296282
26Short humerus (HP:0005792)3.69321836
27* Gonadal dysgenesis (HP:0000133)3.65512311
28Rib fusion (HP:0000902)3.62766423
29Absent forearm bone (HP:0003953)3.62412370
30Aplasia involving forearm bones (HP:0009822)3.62412370
31Rhabdomyosarcoma (HP:0002859)3.59696257
32Rectal fistula (HP:0100590)3.59302400
33Rectovaginal fistula (HP:0000143)3.59302400
34Agnosia (HP:0010524)3.56027724
35Glioma (HP:0009733)3.44993737
36Chromosomal breakage induced by crosslinking agents (HP:0003221)3.43522025
37Selective tooth agenesis (HP:0001592)3.40376568
38Colon cancer (HP:0003003)3.33731778
39Congenital malformation of the right heart (HP:0011723)3.33170917
40Double outlet right ventricle (HP:0001719)3.33170917
41Abnormality of abdominal situs (HP:0011620)3.27964824
42Abdominal situs inversus (HP:0003363)3.27964824
43Chromsome breakage (HP:0040012)3.19591855
44Neoplasm of striated muscle (HP:0009728)3.17012891
45Carpal bone hypoplasia (HP:0001498)3.12869382
46Late onset (HP:0003584)3.12768680
47Enlarged penis (HP:0000040)3.11006914
48Intestinal fistula (HP:0100819)3.09013442
49Unilateral renal agenesis (HP:0000122)3.04435390
50Vaginal fistula (HP:0004320)3.01399393
51Absent thumb (HP:0009777)3.01206629
52Impulsivity (HP:0100710)2.99147336
53Insulin-resistant diabetes mellitus (HP:0000831)2.98637974
54Missing ribs (HP:0000921)2.95474523
55Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.94911098
56Abnormality of the salivary glands (HP:0010286)2.94553249
57Abnormality of the lower motor neuron (HP:0002366)2.86487684
58Patellar aplasia (HP:0006443)2.85331956
59Intestinal atresia (HP:0011100)2.83044202
60Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.77058693
61EEG with generalized epileptiform discharges (HP:0011198)2.74052332
62Shawl scrotum (HP:0000049)2.72490801
63Aplasia/hypoplasia of the uterus (HP:0008684)2.71832333
64Hypomagnesemia (HP:0002917)2.70072563
65Prominent metopic ridge (HP:0005487)2.69450868
66Hypothermia (HP:0002045)2.67650025
67Epileptiform EEG discharges (HP:0011182)2.67580673
68Hypsarrhythmia (HP:0002521)2.64177897
69Testicular atrophy (HP:0000029)2.62791502
70Stenosis of the external auditory canal (HP:0000402)2.61690789
71Asplenia (HP:0001746)2.61585957
72Abnormality of the ileum (HP:0001549)2.60140358
73Prolonged neonatal jaundice (HP:0006579)2.58581562
74Stridor (HP:0010307)2.58001458
75Arthropathy (HP:0003040)2.57588944
76Esophageal atresia (HP:0002032)2.57221866
77Aplasia/Hypoplasia of the patella (HP:0006498)2.57140484
78Meckel diverticulum (HP:0002245)2.54299841
79Basal cell carcinoma (HP:0002671)2.52494728
80Aplasia/Hypoplasia of the uvula (HP:0010293)2.47499368
81Reticulocytopenia (HP:0001896)2.46624965
82Premature ovarian failure (HP:0008209)2.46283902
83Abnormality of the anterior horn cell (HP:0006802)2.42743995
84Degeneration of anterior horn cells (HP:0002398)2.42743995
85Aplasia/Hypoplasia of the spleen (HP:0010451)2.42162529
86Multiple enchondromatosis (HP:0005701)2.41145734
87Tongue fasciculations (HP:0001308)2.40549583
88Abnormal number of incisors (HP:0011064)2.40272232
89Facial diplegia (HP:0001349)2.39582797
90Fused cervical vertebrae (HP:0002949)2.38707872
91Oral leukoplakia (HP:0002745)2.34676652
92* Male pseudohermaphroditism (HP:0000037)2.30868058
93Trismus (HP:0000211)2.30727303
94Transposition of the great arteries (HP:0001669)2.30714947
95Abnormal connection of the cardiac segments (HP:0011545)2.30714947
96Abnormal ventriculo-arterial connection (HP:0011563)2.30714947
97Agitation (HP:0000713)2.29969756
98Hyperphosphatemia (HP:0002905)2.27807725
99Abnormality of the preputium (HP:0100587)2.26144890
100Nuclear cataract (HP:0100018)2.25643718
101Abnormality of chromosome stability (HP:0003220)2.25420743
102Cerebral hypomyelination (HP:0006808)2.24986375
103Rough bone trabeculation (HP:0100670)2.24497244
104Vascular calcification (HP:0004934)2.23907006
105Pancreatic islet-cell hyperplasia (HP:0004510)2.22267827
106Abnormality of the metopic suture (HP:0005556)2.21184481
107Decreased circulating renin level (HP:0003351)2.20443614
108Medial flaring of the eyebrow (HP:0010747)2.19303828
109Vertebral fusion (HP:0002948)2.16777696
110Spinal muscular atrophy (HP:0007269)2.16677905
111Abnormality of magnesium homeostasis (HP:0004921)2.15695602
112Muscle fibrillation (HP:0010546)2.15090714
113Type I diabetes mellitus (HP:0100651)2.14752991
114Duplicated collecting system (HP:0000081)2.14551004
115Abnormality of calcium-phosphate metabolism (HP:0100530)2.14284829
116Hypokinesia (HP:0002375)2.14232555
117Biliary tract neoplasm (HP:0100574)2.13661614
118Muscular hypotonia of the trunk (HP:0008936)2.13361770
119Supernumerary bones of the axial skeleton (HP:0009144)2.12843239
120Nephroblastoma (Wilms tumor) (HP:0002667)2.12440590
121Renal cortical cysts (HP:0000803)2.11334201
122* Renal salt wasting (HP:0000127)2.09461435
123Vertebral clefting (HP:0008428)2.09265439
124Adenoma sebaceum (HP:0009720)2.09103954
125Angiofibromas (HP:0010615)2.09103954
126Supernumerary ribs (HP:0005815)2.08090540
127Small intestinal stenosis (HP:0012848)2.07395019
128Duodenal stenosis (HP:0100867)2.07395019
129Gastrointestinal atresia (HP:0002589)2.07226668
130Hypochromic microcytic anemia (HP:0004840)2.07162533
131Tracheoesophageal fistula (HP:0002575)2.07104506
132Insulin resistance (HP:0000855)2.04493782
133Metaphyseal cupping (HP:0003021)2.04048345
134Bilateral microphthalmos (HP:0007633)2.02559445
135Aplasia/Hypoplasia of the sternum (HP:0006714)2.01003259
136Neoplasm of the pancreas (HP:0002894)2.00962523
137Atresia of the external auditory canal (HP:0000413)2.00946265
138Proximal placement of thumb (HP:0009623)1.99972009
139Hemivertebrae (HP:0002937)1.98726519
140Poor suck (HP:0002033)1.98649483
141Horseshoe kidney (HP:0000085)1.97943602
142Mesomelia (HP:0003027)1.97641119
143Increased circulating renin level (HP:0000848)1.96979110
144Ketosis (HP:0001946)1.96296079
145Congenital primary aphakia (HP:0007707)1.95269712
146Periauricular skin pits (HP:0100277)1.94829691
147Preauricular pit (HP:0004467)1.94829691
148Embryonal renal neoplasm (HP:0011794)1.93853069
149Abnormality of pyrimidine metabolism (HP:0004353)1.93631578
150Sloping forehead (HP:0000340)1.92630144
151Atrophy/Degeneration involving motor neurons (HP:0007373)1.92335432
152Gait imbalance (HP:0002141)1.91691370
153Breast aplasia (HP:0100783)1.91426065
154Abnormality of the duodenum (HP:0002246)1.90850259
155Gastrointestinal carcinoma (HP:0002672)1.90081771
156Malignant gastrointestinal tract tumors (HP:0006749)1.90081771
157Menstrual irregularities (HP:0000858)1.89886761
158Anxiety (HP:0000739)1.88600378
159Pseudobulbar signs (HP:0002200)1.87909049
160Downturned corners of mouth (HP:0002714)1.87722404
161Myelodysplasia (HP:0002863)1.87572807
162Anal stenosis (HP:0002025)1.86892736
163Hypoalbuminemia (HP:0003073)1.86724511
164Abnormal albumin level (HP:0012116)1.86724511
165Premature graying of hair (HP:0002216)1.86369447
166Deviation of the thumb (HP:0009603)1.85380721
167Vertebral hypoplasia (HP:0008417)1.84301882
168Aplasia/Hypoplasia of the vertebrae (HP:0008515)1.84301882
169Cardiovascular calcification (HP:0011915)1.83877297
170Hypoplasia of the uterus (HP:0000013)1.78419338
171Abnormality of renin-angiotensin system (HP:0000847)1.77493339
172Large eyes (HP:0001090)1.76302820
173Abnormality of the nasal septum (HP:0000419)1.75934924
174Villous atrophy (HP:0011473)1.74765286
175Abnormality of small intestinal villus morphology (HP:0011472)1.74765286
176Progressive inability to walk (HP:0002505)1.74684154
177Median cleft lip (HP:0000161)1.73250283
178Hemiparesis (HP:0001269)1.72599721
179True hermaphroditism (HP:0010459)1.71573733
180Abnormality of vitamin B metabolism (HP:0004340)1.69645481
181Delayed gross motor development (HP:0002194)1.69243681
182Secondary amenorrhea (HP:0000869)1.69055696
183Azoospermia (HP:0000027)1.68704673
184Hypoplastic left heart (HP:0004383)1.68273348
185Methylmalonic acidemia (HP:0002912)1.66832140
186Decreased testicular size (HP:0008734)1.66624114
187Gout (HP:0001997)1.65411526
188Occipital encephalocele (HP:0002085)1.64318619
189Macroorchidism (HP:0000053)1.63254663
190Nephrogenic diabetes insipidus (HP:0009806)1.61092272
191Abnormality of the basal ganglia (HP:0002134)1.57453716
192Mesangial abnormality (HP:0001966)1.56197957
193Diminished movement (HP:0002374)1.55740595
194Vaginal atresia (HP:0000148)1.55619943
195Facial cleft (HP:0002006)1.54150963

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK6.07755543
2CDK124.54865789
3WEE14.09464729
4FER3.90768801
5BUB13.80937713
6EPHA23.65768732
7CDC73.12784577
8TTK3.05817507
9MST42.93980124
10TRIM282.85846209
11NEK12.81604247
12DAPK22.51718400
13RPS6KB22.50535729
14CDK72.41840951
15AKT32.34817902
16FGFR22.25293909
17NEK22.16836373
18MST1R2.13962046
19PLK12.09798152
20TRPM71.97677777
21FES1.93353268
22MAPKAPK31.90503226
23CASK1.89374150
24ICK1.86583868
25NME11.85112404
26TSSK61.81369935
27SIK31.80573242
28PNCK1.78602221
29TESK21.77476704
30PHKG11.76714236
31PHKG21.76714236
32SRPK11.76425099
33CHEK21.74637798
34IRAK21.74511765
35FGFR31.74010115
36PAK31.68714392
37STK161.65301285
38NLK1.64703814
39ATR1.57062023
40PRKCE1.56203853
41IRAK11.52868004
42TYRO31.49651591
43DYRK31.46878201
44PLK21.45096414
45NTRK31.44515374
46GRK11.41881081
47EIF2AK11.37555528
48BRD41.35936759
49AURKA1.35255569
50CHEK11.34964539
51AURKB1.32865211
52ALK1.30724172
53PAK41.30112349
54PASK1.28563302
55TLK11.26149289
56MAP3K41.24793733
57MAP3K81.22850072
58CDK41.22005177
59PINK11.21305321
60FLT31.19385523
61IRAK31.16721368
62PLK31.14964911
63VRK11.13263433
64PDK21.10131986
65STK101.10090119
66MAP4K21.09904823
67MAP3K21.09072394
68PDK41.08670662
69PDK31.08670662
70LATS21.08416611
71ACVR1B1.07221048
72CDK21.05965605
73BMPR1B1.04621104
74ATM1.00509144
75DDR21.00498839
76CSNK1G11.00487628
77MET0.99223955
78PIM10.92734706
79PRKCI0.92715954
80BCKDK0.92016546
81ADRBK20.90266961
82MATK0.89791864
83BRSK20.89524800
84INSRR0.88837294
85DYRK20.88193030
86MTOR0.87546074
87STK40.85341150
88MAP2K60.83600723
89MAP3K120.83157732
90CAMK1G0.82897128
91LIMK10.80937205
92SCYL20.80617308
93HIPK20.79818170
94CDK60.78291152
95TNIK0.77410149
96PRKCG0.76116918
97NME20.74705010
98CSNK2A20.73870796
99YES10.73780446
100PLK40.73031761
101STK38L0.72562040
102EIF2AK30.70457663
103PKN20.70179730
104CDK10.69657993
105PRKG20.68095975
106GRK60.66423439
107CAMK10.66403983
108DAPK10.66202574
109CSNK1E0.65547010
110ERBB30.62883953
111MKNK20.62375888
112MAP3K90.59989964
113PRKAA20.59685936
114CSNK2A10.58233926
115BMX0.58056396
116EPHA30.58018759
117PAK10.57531144
118CSNK1D0.57344744
119MAP3K110.57202744
120CAMK2D0.56499911
121PTK20.55222256
122UHMK10.54852553
123MAP3K70.54756876
124MELK0.54193139
125MAP3K100.53610020
126AKT20.53565797
127MKNK10.53545070
128ZAK0.53231210
129CSNK1A10.50473949
130EEF2K0.49991164
131PRKD20.48137900
132STK380.47124430
133MAP3K10.46822324
134ROCK20.45890263
135BCR0.45618588
136EPHB10.45454123
137CSNK1G20.45164727
138MAP3K60.43938290
139CSNK1G30.43609678
140TAOK10.41608796
141PRKD30.41599279
142MAPK140.41566930
143MYLK0.41505794
144TESK10.41409963
145PRKAA10.40849900
146BRSK10.40414227
147PRKDC0.40160427
148CSK0.39387353
149GRK50.39239796
150MAPK10.38236301
151BRAF0.37673118
152MAP2K70.37286036
153GSK3B0.36329342
154CHUK0.34267801
155WNK30.34019009
156ERBB40.33885333
157TAOK20.33811477
158TGFBR10.33157448
159PBK0.33151104
160STK110.32769330
161MUSK0.32458666
162FGR0.32116430
163MAPK150.31937541
164MAPK100.31696495
165ROCK10.31500512
166DYRK1B0.30844949
167PDGFRA0.30606667
168ABL20.29356461
169PRKCZ0.29044330
170PRKACA0.28369569
171CAMK2A0.27927612
172ILK0.26702144
173ADRBK10.26235853
174CAMK2G0.25736161
175SGK20.25312804
176CAMK1D0.24421635

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049507.19668561
2Mismatch repair_Homo sapiens_hsa034305.06239189
3DNA replication_Homo sapiens_hsa030304.76606697
4Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030084.36141828
5RNA transport_Homo sapiens_hsa030133.39347006
6One carbon pool by folate_Homo sapiens_hsa006703.38534327
7Spliceosome_Homo sapiens_hsa030403.22206073
8Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009703.06188638
9Base excision repair_Homo sapiens_hsa034102.95088927
10Nucleotide excision repair_Homo sapiens_hsa034202.94553119
11RNA polymerase_Homo sapiens_hsa030202.84734313
12Ribosome_Homo sapiens_hsa030102.82194360
13Homologous recombination_Homo sapiens_hsa034402.79471196
14Sulfur metabolism_Homo sapiens_hsa009202.61306449
15Protein export_Homo sapiens_hsa030602.59897161
16Fanconi anemia pathway_Homo sapiens_hsa034602.41714817
17Cell cycle_Homo sapiens_hsa041102.40945416
18Pentose and glucuronate interconversions_Homo sapiens_hsa000402.26360239
19Insulin secretion_Homo sapiens_hsa049112.13446641
20Proteasome_Homo sapiens_hsa030502.06620867
21mRNA surveillance pathway_Homo sapiens_hsa030152.01598293
22Pyrimidine metabolism_Homo sapiens_hsa002401.89343892
23Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.85319993
24Collecting duct acid secretion_Homo sapiens_hsa049661.82191561
25Basal transcription factors_Homo sapiens_hsa030221.80564657
26Steroid hormone biosynthesis_Homo sapiens_hsa001401.77000911
27RNA degradation_Homo sapiens_hsa030181.70545895
28Synaptic vesicle cycle_Homo sapiens_hsa047211.69580659
29Non-homologous end-joining_Homo sapiens_hsa034501.61986033
30Fatty acid elongation_Homo sapiens_hsa000621.61645957
31Biosynthesis of amino acids_Homo sapiens_hsa012301.59475354
32p53 signaling pathway_Homo sapiens_hsa041151.58743665
33Type II diabetes mellitus_Homo sapiens_hsa049301.56789499
34Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.55510764
35Ovarian steroidogenesis_Homo sapiens_hsa049131.53261024
362-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.53250136
37Butanoate metabolism_Homo sapiens_hsa006501.47389033
38Cyanoamino acid metabolism_Homo sapiens_hsa004601.30097947
39Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.26233771
40Vibrio cholerae infection_Homo sapiens_hsa051101.23142375
41Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.22377904
42Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.21915861
43Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.21410900
44Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.18049657
45ABC transporters_Homo sapiens_hsa020101.14917781
46Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.14112513
47beta-Alanine metabolism_Homo sapiens_hsa004101.13633115
48Regulation of autophagy_Homo sapiens_hsa041401.11467239
49Fatty acid metabolism_Homo sapiens_hsa012121.10806871
50Chemical carcinogenesis_Homo sapiens_hsa052041.10777027
51Cysteine and methionine metabolism_Homo sapiens_hsa002701.09739401
52Sphingolipid metabolism_Homo sapiens_hsa006001.07244646
53Steroid biosynthesis_Homo sapiens_hsa001001.06668885
54Selenocompound metabolism_Homo sapiens_hsa004501.05251130
55Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.04654748
56Folate biosynthesis_Homo sapiens_hsa007901.04425014
57Tryptophan metabolism_Homo sapiens_hsa003801.03384121
58Fructose and mannose metabolism_Homo sapiens_hsa000511.03178071
59Circadian rhythm_Homo sapiens_hsa047101.02920800
60Oocyte meiosis_Homo sapiens_hsa041141.01865913
61Systemic lupus erythematosus_Homo sapiens_hsa053220.96603610
62Oxidative phosphorylation_Homo sapiens_hsa001900.94683114
63Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.94215563
64Hippo signaling pathway_Homo sapiens_hsa043900.92794478
65Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.91604604
66Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.91137057
67Purine metabolism_Homo sapiens_hsa002300.90328332
68Aldosterone synthesis and secretion_Homo sapiens_hsa049250.89865832
69Basal cell carcinoma_Homo sapiens_hsa052170.88029300
70Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.86446250
71Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.84903684
72Epstein-Barr virus infection_Homo sapiens_hsa051690.83940051
73TGF-beta signaling pathway_Homo sapiens_hsa043500.83268262
74Propanoate metabolism_Homo sapiens_hsa006400.81932915
75Retinol metabolism_Homo sapiens_hsa008300.81800764
76Viral carcinogenesis_Homo sapiens_hsa052030.81198888
77SNARE interactions in vesicular transport_Homo sapiens_hsa041300.80329658
78Renin secretion_Homo sapiens_hsa049240.79358780
79Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.78383854
80Carbon metabolism_Homo sapiens_hsa012000.77602675
81Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.77242723
82GABAergic synapse_Homo sapiens_hsa047270.76552996
83Starch and sucrose metabolism_Homo sapiens_hsa005000.75959960
84Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.74227175
85Vitamin digestion and absorption_Homo sapiens_hsa049770.73346467
86Glucagon signaling pathway_Homo sapiens_hsa049220.72216459
87Peroxisome_Homo sapiens_hsa041460.72031241
88Vitamin B6 metabolism_Homo sapiens_hsa007500.71921605
89Fatty acid degradation_Homo sapiens_hsa000710.71834528
90Glycerolipid metabolism_Homo sapiens_hsa005610.71470000
91Hedgehog signaling pathway_Homo sapiens_hsa043400.70473201
92Glycosaminoglycan degradation_Homo sapiens_hsa005310.69593975
93Histidine metabolism_Homo sapiens_hsa003400.68674523
94Glutathione metabolism_Homo sapiens_hsa004800.67787310
95Thyroid hormone synthesis_Homo sapiens_hsa049180.66774023
96mTOR signaling pathway_Homo sapiens_hsa041500.66603291
97Notch signaling pathway_Homo sapiens_hsa043300.66468025
98Thyroid cancer_Homo sapiens_hsa052160.64512277
99Sulfur relay system_Homo sapiens_hsa041220.63822711
100Drug metabolism - other enzymes_Homo sapiens_hsa009830.62263928
101MicroRNAs in cancer_Homo sapiens_hsa052060.62262986
102Primary bile acid biosynthesis_Homo sapiens_hsa001200.61579982
103N-Glycan biosynthesis_Homo sapiens_hsa005100.60120311
104cGMP-PKG signaling pathway_Homo sapiens_hsa040220.60034264
105Mineral absorption_Homo sapiens_hsa049780.59967787
106Arginine and proline metabolism_Homo sapiens_hsa003300.59214365
107Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.59048433
108Amphetamine addiction_Homo sapiens_hsa050310.57868993
109Galactose metabolism_Homo sapiens_hsa000520.54602281
110Central carbon metabolism in cancer_Homo sapiens_hsa052300.53428429
111Dorso-ventral axis formation_Homo sapiens_hsa043200.52959341
112Other glycan degradation_Homo sapiens_hsa005110.51431419
113Herpes simplex infection_Homo sapiens_hsa051680.51359087
114Type I diabetes mellitus_Homo sapiens_hsa049400.51233953
115Pentose phosphate pathway_Homo sapiens_hsa000300.48974498
116Dopaminergic synapse_Homo sapiens_hsa047280.47852866
117Bile secretion_Homo sapiens_hsa049760.47377882
118HTLV-I infection_Homo sapiens_hsa051660.46703784
119Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.46400050
120Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.46224182
121Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.46099375
122Bladder cancer_Homo sapiens_hsa052190.45990464
123Transcriptional misregulation in cancer_Homo sapiens_hsa052020.45381682
124Tight junction_Homo sapiens_hsa045300.44834472
125Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.43892752
126Circadian entrainment_Homo sapiens_hsa047130.43249815
127Lysosome_Homo sapiens_hsa041420.42306922
128Linoleic acid metabolism_Homo sapiens_hsa005910.41671436
129Adherens junction_Homo sapiens_hsa045200.41414983
130Ether lipid metabolism_Homo sapiens_hsa005650.39889602
131Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.39859724
132Insulin resistance_Homo sapiens_hsa049310.38702207
133Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.38228508
134Colorectal cancer_Homo sapiens_hsa052100.37821405
135Small cell lung cancer_Homo sapiens_hsa052220.37129456
136Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.36750685
137Huntingtons disease_Homo sapiens_hsa050160.36292024
138Phototransduction_Homo sapiens_hsa047440.36175736
139Arachidonic acid metabolism_Homo sapiens_hsa005900.34174954
140Alcoholism_Homo sapiens_hsa050340.33716285
141Fatty acid biosynthesis_Homo sapiens_hsa000610.33434860
142Salivary secretion_Homo sapiens_hsa049700.32068612
143Pathways in cancer_Homo sapiens_hsa052000.31538283
144Long-term depression_Homo sapiens_hsa047300.31110847
145Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.31010995
146Wnt signaling pathway_Homo sapiens_hsa043100.30625552
147Lysine degradation_Homo sapiens_hsa003100.29597554
148alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.29528801
149Antigen processing and presentation_Homo sapiens_hsa046120.29395880
150Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.27690695
151Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.25393711
152Nitrogen metabolism_Homo sapiens_hsa009100.24347001
153HIF-1 signaling pathway_Homo sapiens_hsa040660.22299394
154Arginine biosynthesis_Homo sapiens_hsa002200.21936122
155Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.19718491
156Metabolic pathways_Homo sapiens_hsa011000.18096868
157Pyruvate metabolism_Homo sapiens_hsa006200.16239959
158Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.14913726
159Melanoma_Homo sapiens_hsa052180.13788075
160Longevity regulating pathway - mammal_Homo sapiens_hsa042110.11879525
161Regulation of actin cytoskeleton_Homo sapiens_hsa048100.10950107
162PI3K-Akt signaling pathway_Homo sapiens_hsa041510.10798086
163Thyroid hormone signaling pathway_Homo sapiens_hsa049190.10046082
164Legionellosis_Homo sapiens_hsa051340.08556737
165Apoptosis_Homo sapiens_hsa042100.05866161
166Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.03507871
167Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.03083328
168AMPK signaling pathway_Homo sapiens_hsa041520.02538300
169Prostate cancer_Homo sapiens_hsa052150.02103733
170Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.01913927

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