MDM2

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 nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1ventricular cardiac muscle cell development (GO:0055015)6.06615456
2protein heterotrimerization (GO:0070208)5.84143502
3melanin biosynthetic process (GO:0042438)5.54819929
4female gonad development (GO:0008585)5.33460281
5melanin metabolic process (GO:0006582)5.21792688
6low-density lipoprotein particle clearance (GO:0034383)5.01327432
7positive regulation of developmental pigmentation (GO:0048087)4.71967518
8cell migration involved in heart development (GO:0060973)4.67187921
9secondary metabolite biosynthetic process (GO:0044550)4.66942421
10embryonic camera-type eye development (GO:0031076)4.57730403
11hair cell differentiation (GO:0035315)4.56704622
12mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)4.54628006
13regulation of cholesterol storage (GO:0010885)4.52137865
14venous blood vessel morphogenesis (GO:0048845)4.46991684
15regulation of nuclear cell cycle DNA replication (GO:0033262)4.39671609
16melanosome organization (GO:0032438)4.28465830
17pigment granule organization (GO:0048753)4.16194339
18endodermal cell differentiation (GO:0035987)4.15288883
19ketone body metabolic process (GO:1902224)4.10814640
20monoubiquitinated protein deubiquitination (GO:0035520)4.10139159
21antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.05689737
22anterior/posterior axis specification, embryo (GO:0008595)3.98997365
23regulation of centriole replication (GO:0046599)3.90439837
24cell adhesion mediated by integrin (GO:0033627)3.88848523
25positive regulation of p38MAPK cascade (GO:1900745)3.87442224
26left/right axis specification (GO:0070986)3.85798876
27regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.82821705
28heterochromatin organization (GO:0070828)3.78061213
29regulation of DNA endoreduplication (GO:0032875)3.76907335
30regulation of sequestering of triglyceride (GO:0010889)3.75145782
31genitalia morphogenesis (GO:0035112)3.73610981
32mitotic sister chromatid segregation (GO:0000070)3.71214547
33basement membrane organization (GO:0071711)3.65536674
34sister chromatid segregation (GO:0000819)3.65266470
35positive regulation of DNA-dependent DNA replication (GO:2000105)3.62019665
36wound healing, spreading of epidermal cells (GO:0035313)3.61903651
37negative regulation of norepinephrine secretion (GO:0010700)3.59386769
38negative regulation of macrophage derived foam cell differentiation (GO:0010745)3.50801514
39chondrocyte proliferation (GO:0035988)3.48933790
40negative regulation of lipid storage (GO:0010888)3.44889196
41melanocyte differentiation (GO:0030318)3.42888419
42regulation of hippo signaling (GO:0035330)3.40867022
43positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.38598067
44regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 3.38534160
45prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060523.36325704
46otic vesicle formation (GO:0030916)3.33280206
47positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)3.31779903
48positive regulation of endothelial cell apoptotic process (GO:2000353)3.30962095
49pigment cell differentiation (GO:0050931)3.30953955
50skin morphogenesis (GO:0043589)3.30392206
51nuclear pore complex assembly (GO:0051292)3.30275007
52mitotic sister chromatid cohesion (GO:0007064)3.29138921
53negative regulation of DNA repair (GO:0045738)3.26830375
54peristalsis (GO:0030432)3.23182372
55positive regulation by symbiont of host defense response (GO:0052509)3.22328763
56modulation by symbiont of host defense response (GO:0052031)3.22328763
57modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.22328763
58modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.22328763
59positive regulation by organism of defense response of other organism involved in symbiotic interact3.22328763
60modulation by symbiont of host immune response (GO:0052553)3.22328763
61apoptotic cell clearance (GO:0043277)3.20919488
62ectodermal placode formation (GO:0060788)3.14685049
63response to muramyl dipeptide (GO:0032495)3.14073290
64natural killer cell mediated immunity (GO:0002228)3.12340149
65natural killer cell mediated cytotoxicity (GO:0042267)3.12340149
66regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033393.11131836
67protein prenylation (GO:0018342)3.10290248
68prenylation (GO:0097354)3.10290248
69Rap protein signal transduction (GO:0032486)3.10049946
70regulation of ER to Golgi vesicle-mediated transport (GO:0060628)3.09862819
71protein K11-linked deubiquitination (GO:0035871)3.09171813
72iron ion import (GO:0097286)3.08077694
73myoblast fusion (GO:0007520)3.07721384
74meiotic chromosome segregation (GO:0045132)3.04765610
75collagen fibril organization (GO:0030199)3.03865609
76double-strand break repair via homologous recombination (GO:0000724)3.03395828
77digestive tract morphogenesis (GO:0048546)3.03218738
78regulation of macrophage derived foam cell differentiation (GO:0010743)3.02787608
79regulation of integrin activation (GO:0033623)3.02396253
80gastrulation with mouth forming second (GO:0001702)3.01702884
81DNA double-strand break processing (GO:0000729)3.00903823
82recombinational repair (GO:0000725)2.99554455
83regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.98710141
84peptidyl-proline hydroxylation (GO:0019511)2.96178620
85regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.95975251
86pericardium development (GO:0060039)2.95622184
87positive regulation of protein oligomerization (GO:0032461)2.94243094
88syncytium formation (GO:0006949)2.92985448
89replication fork processing (GO:0031297)2.92637423
90wound healing, spreading of cells (GO:0044319)2.89684710
91cellular response to interferon-alpha (GO:0035457)2.89370682
92positive regulation of inositol phosphate biosynthetic process (GO:0060732)2.88958867
93positive regulation of lipid storage (GO:0010884)2.88816061
94endosome to melanosome transport (GO:0035646)2.86498822
95endosome to pigment granule transport (GO:0043485)2.86498822
96negative regulation of Rho protein signal transduction (GO:0035024)2.86211799
97response to lipoprotein particle (GO:0055094)2.86210964
98dorsal/ventral axis specification (GO:0009950)2.84821071
99negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)2.83974612
100histone H2A acetylation (GO:0043968)2.83913361
101ventricular septum morphogenesis (GO:0060412)2.83784995
102nuclear pore organization (GO:0006999)2.83571161
103signal peptide processing (GO:0006465)2.83008989
104retina vasculature morphogenesis in camera-type eye (GO:0061299)2.82273622
105negative regulation of granulocyte differentiation (GO:0030853)2.81249433
106positive regulation of protein autophosphorylation (GO:0031954)2.80920942
107UDP-N-acetylglucosamine metabolic process (GO:0006047)2.79827555
108collagen catabolic process (GO:0030574)2.78874593
109somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.78505482
110somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.78505482
111isotype switching (GO:0045190)2.78505482
112lung morphogenesis (GO:0060425)2.78033833
113negative regulation of smooth muscle cell migration (GO:0014912)2.77638902
114positive regulation of leukocyte apoptotic process (GO:2000108)2.76194405
115collagen metabolic process (GO:0032963)2.76171534
116regulation of centrosome duplication (GO:0010824)2.76115899
117apoptotic process involved in morphogenesis (GO:0060561)2.76100471
118translesion synthesis (GO:0019985)2.75843786
119centrosome duplication (GO:0051298)2.75537947
120spindle checkpoint (GO:0031577)2.74650835
121mitotic spindle checkpoint (GO:0071174)2.73762928
122phasic smooth muscle contraction (GO:0014821)2.73160557
123substrate-dependent cell migration (GO:0006929)2.73027356
124detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.72886409
125protein hydroxylation (GO:0018126)2.71777501
126positive regulation of interferon-alpha production (GO:0032727)2.71576174
127response to vitamin A (GO:0033189)2.71490851
128embryonic digestive tract morphogenesis (GO:0048557)2.70075334
129regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.67371034
130regulation of DNA-dependent DNA replication (GO:0090329)2.67061170
131platelet-derived growth factor receptor signaling pathway (GO:0048008)2.66069281
132regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.65977806
133organ induction (GO:0001759)2.65428388
134modulation by symbiont of host cellular process (GO:0044068)2.64997505
135regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)2.64356384
136mitochondrial DNA replication (GO:0006264)2.64282936
137NIK/NF-kappaB signaling (GO:0038061)2.64281639
138regulation of mitotic spindle organization (GO:0060236)2.63042880
139postreplication repair (GO:0006301)2.62617397
140growth hormone receptor signaling pathway (GO:0060396)2.62280345
141neutrophil activation involved in immune response (GO:0002283)2.62015081
142regulation of centrosome cycle (GO:0046605)2.61835941
143DNA-dependent DNA replication (GO:0006261)2.60830618
144positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.60754347
145negative regulation of DNA-dependent DNA replication (GO:2000104)2.60061702
146non-recombinational repair (GO:0000726)2.59119594
147double-strand break repair via nonhomologous end joining (GO:0006303)2.59119594
148regulation of interferon-alpha production (GO:0032647)2.58605749
149ventricular septum development (GO:0003281)2.58574120
150positive regulation of macrophage derived foam cell differentiation (GO:0010744)2.58467080
151spliceosomal tri-snRNP complex assembly (GO:0000244)2.57704485
152regulation of establishment of cell polarity (GO:2000114)2.57466028
153syncytium formation by plasma membrane fusion (GO:0000768)2.57207151
154regulation of lipid storage (GO:0010883)2.56871950
155rRNA methylation (GO:0031167)2.56454802
156regulation of protein polyubiquitination (GO:1902914)2.56053538
157positive regulation of protein homooligomerization (GO:0032464)2.55800293
158somatic diversification of immune receptors via somatic mutation (GO:0002566)2.54444644
159somatic hypermutation of immunoglobulin genes (GO:0016446)2.54444644
160regulation of myeloid cell apoptotic process (GO:0033032)2.53884798
161parental behavior (GO:0060746)2.53222202
162spindle assembly (GO:0051225)2.52901594
163pore complex assembly (GO:0046931)2.52589145
164white fat cell differentiation (GO:0050872)2.51652693
165spindle assembly involved in mitosis (GO:0090307)2.51463341
166regulation of non-canonical Wnt signaling pathway (GO:2000050)2.51221131
167I-kappaB phosphorylation (GO:0007252)2.51138083
168myeloid cell homeostasis (GO:0002262)2.51069729
169multicellular organismal macromolecule metabolic process (GO:0044259)2.50650784
170positive regulation of chemokine biosynthetic process (GO:0045080)2.50056899
171brown fat cell differentiation (GO:0050873)2.49399405
172multicellular organismal catabolic process (GO:0044243)2.47430737
173negative regulation of B cell proliferation (GO:0030889)2.45037858
174positive regulation of macrophage cytokine production (GO:0060907)2.43551653
175bone trabecula formation (GO:0060346)2.43454936
1764-hydroxyproline metabolic process (GO:0019471)2.42369163
177branching involved in salivary gland morphogenesis (GO:0060445)2.42268980
178multicellular organismal metabolic process (GO:0044236)2.40997140
179regulation of p38MAPK cascade (GO:1900744)2.40669401
180response to peptidoglycan (GO:0032494)2.40273307
181regulation of interleukin-12 biosynthetic process (GO:0045075)2.39616033
182positive regulation of osteoblast proliferation (GO:0033690)2.39355612
183positive regulation of interferon-beta production (GO:0032728)2.39284740
184regulation of interferon-beta biosynthetic process (GO:0045357)2.37673117
185positive regulation of glomerulus development (GO:0090193)2.37551024
186T cell apoptotic process (GO:0070231)2.36976220
187regulation of protein import into nucleus, translocation (GO:0033158)2.36949566
188response to interferon-alpha (GO:0035455)2.35936824
189cellular response to amino acid stimulus (GO:0071230)2.34741698
190positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.33228641
191negative regulation of phagocytosis (GO:0050765)2.32861474
192detection of molecule of bacterial origin (GO:0032490)2.32616661
193axon extension involved in axon guidance (GO:0048846)2.32320260
194neuron projection extension involved in neuron projection guidance (GO:1902284)2.32320260
195extracellular matrix disassembly (GO:0022617)2.31571822
196cellular response to arsenic-containing substance (GO:0071243)2.29463013
197negative regulation of fatty acid transport (GO:2000192)2.28017880

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse4.25047648
2EGR1_19374776_ChIP-ChIP_THP-1_Human4.15178108
3* TP63_17297297_ChIP-ChIP_HaCaT_Human3.77257980
4TRIM28_21343339_ChIP-Seq_HEK293_Human3.16464058
5PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.03914623
6FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.02001761
7RARG_19884340_ChIP-ChIP_MEFs_Mouse2.91311162
8IRF8_21731497_ChIP-ChIP_J774_Mouse2.77120197
9CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.69767936
10TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.67914662
11ZNF274_21170338_ChIP-Seq_K562_Hela2.64736877
12KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.61972437
13* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.53001885
14E2F7_22180533_ChIP-Seq_HELA_Human2.49697911
15E2F4_17652178_ChIP-ChIP_JURKAT_Human2.47865220
16* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.46533505
17IRF8_22096565_ChIP-ChIP_GC-B_Human2.45573712
18* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.38660021
19TP53_16413492_ChIP-PET_HCT116_Human2.35268535
20POU3F2_20337985_ChIP-ChIP_501MEL_Human2.31175489
21SMAD_19615063_ChIP-ChIP_OVARY_Human2.30058744
22* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.29569034
23CLOCK_20551151_ChIP-Seq_293T_Human2.29296056
24MYB_21317192_ChIP-Seq_ERMYB_Mouse2.26570366
25FOXM1_23109430_ChIP-Seq_U2OS_Human2.26235375
26ELK1_19687146_ChIP-ChIP_HELA_Human2.24934617
27* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.23051801
28HIF1A_21447827_ChIP-Seq_MCF-7_Human2.19552377
29RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.18604412
30CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.18506435
31TFEB_21752829_ChIP-Seq_HELA_Human2.17069507
32NOTCH1_21737748_ChIP-Seq_TLL_Human2.12178928
33TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.06956169
34* ASXL1_24218140_ChIP-Seq_BMDM_Mouse2.04279957
35GABP_17652178_ChIP-ChIP_JURKAT_Human1.99592228
36* IRF8_27001747_Chip-Seq_BMDM_Mouse1.99204355
37AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.99149117
38FUS_26573619_Chip-Seq_HEK293_Human1.99085210
39EWS_26573619_Chip-Seq_HEK293_Human1.97274551
40SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.96935769
41PADI4_21655091_ChIP-ChIP_MCF-7_Human1.91838866
42BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.85588658
43* TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.80407973
44PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.79883034
45ZFP57_27257070_Chip-Seq_ESCs_Mouse1.79681206
46ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.76634133
47IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.73714378
48* TP53_18474530_ChIP-ChIP_U2OS_Human1.73550844
49BRD4_25478319_ChIP-Seq_HGPS_Human1.66454013
50BRD4_27068464_Chip-Seq_AML-cells_Mouse1.65483257
51P300_19829295_ChIP-Seq_ESCs_Human1.65358520
52* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.64798676
53* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.64798676
54ELK3_25401928_ChIP-Seq_HUVEC_Human1.61376697
55SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.60909902
56VDR_22108803_ChIP-Seq_LS180_Human1.59166736
57STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.56922118
58RBPJ_22232070_ChIP-Seq_NCS_Mouse1.55829075
59EZH2_27294783_Chip-Seq_NPCs_Mouse1.53016277
60PPAR_26484153_Chip-Seq_NCI-H1993_Human1.49996912
61SALL4_18804426_ChIP-ChIP_XEN_Mouse1.49756640
62FOXO3_23340844_ChIP-Seq_DLD1_Human1.48804819
63CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.48563564
64MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.48054967
65HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.47312195
66MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.46993233
67PIAS1_25552417_ChIP-Seq_VCAP_Human1.46396186
68STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.46321234
69IGF1R_20145208_ChIP-Seq_DFB_Human1.45832732
70ATF3_27146783_Chip-Seq_COLON_Human1.45741037
71CRX_20693478_ChIP-Seq_RETINA_Mouse1.45194464
72ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.43705271
73NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.43641890
74STAT3_23295773_ChIP-Seq_U87_Human1.43032091
75* FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.42425512
76TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.42245316
77GBX2_23144817_ChIP-Seq_PC3_Human1.40723171
78JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.40480490
79FLI1_27457419_Chip-Seq_LIVER_Mouse1.39327156
80EST1_17652178_ChIP-ChIP_JURKAT_Human1.38748821
81CDX2_22108803_ChIP-Seq_LS180_Human1.37650234
82SUZ12_27294783_Chip-Seq_NPCs_Mouse1.37069554
83* ESR1_20079471_ChIP-ChIP_T-47D_Human1.36900653
84* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.36840102
85TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.36117438
86PCGF2_27294783_Chip-Seq_ESCs_Mouse1.35620888
87SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.35234273
88NFE2_27457419_Chip-Seq_LIVER_Mouse1.35155890
89CJUN_26792858_Chip-Seq_BT549_Human1.35066089
90ER_23166858_ChIP-Seq_MCF-7_Human1.34978767
91TAF15_26573619_Chip-Seq_HEK293_Human1.34960529
92PCGF2_27294783_Chip-Seq_NPCs_Mouse1.34016051
93* VDR_23849224_ChIP-Seq_CD4+_Human1.32386298
94TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.31472224
95AR_21909140_ChIP-Seq_LNCAP_Human1.31405843
96IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.30646734
97SMAD4_21799915_ChIP-Seq_A2780_Human1.30211840
98ZNF217_24962896_ChIP-Seq_MCF-7_Human1.30049951
99KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.29547517
100NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.28983212
101* PPARG_20887899_ChIP-Seq_3T3-L1_Mouse1.28941594
102YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.28719810
103STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.26816355
104MYC_22102868_ChIP-Seq_BL_Human1.25762849
105BCAT_22108803_ChIP-Seq_LS180_Human1.25465652
106WT1_19549856_ChIP-ChIP_CCG9911_Human1.24836946
107* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.24716770
108GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.24409438
109* OCT4_21477851_ChIP-Seq_ESCs_Mouse1.24368390
110MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.24237002
111OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.23637938
112UBF1/2_26484160_Chip-Seq_HMECs_Human1.23572952
113E2F1_18555785_Chip-Seq_ESCs_Mouse1.23228904
114SMAD3_21741376_ChIP-Seq_EPCs_Human1.22806072
115FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.21351492
116* E2F1_21310950_ChIP-Seq_MCF-7_Human1.21071117
117JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.20344988
118TCF7_22412390_ChIP-Seq_EML_Mouse1.19486753
119* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.19402180
120* NRF2_20460467_ChIP-Seq_MEFs_Mouse1.19402180
121VDR_24763502_ChIP-Seq_THP-1_Human1.18921082
122* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.18755726
123NANOG_18555785_Chip-Seq_ESCs_Mouse1.18529602
124NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.18422399
125* FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.16963354
126STAT3_1855785_ChIP-Seq_MESCs_Mouse1.15773223
127SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.14966123
128CREB1_15753290_ChIP-ChIP_HEK293T_Human1.14857569
129PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.14502592
130SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.14443304
131PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.13936654
132STAT3_18555785_Chip-Seq_ESCs_Mouse1.12878583
133SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.12283821
134BP1_19119308_ChIP-ChIP_Hs578T_Human1.11835831
135P53_22387025_ChIP-Seq_ESCs_Mouse1.11827166
136VDR_21846776_ChIP-Seq_THP-1_Human1.10987615
137PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.10834113
138P300_27058665_Chip-Seq_ZR-75-30cells_Human1.10802949
139P300_18555785_Chip-Seq_ESCs_Mouse1.10798682
140KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.10466980
141GATA2_21666600_ChIP-Seq_HMVEC_Human1.10151059
142ESR1_21235772_ChIP-Seq_MCF-7_Human1.10119799
143MAF_26560356_Chip-Seq_TH1_Human1.10119144
144EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.09817496
145FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.09367073
146FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.08983681
147SUZ12_18555785_Chip-Seq_ESCs_Mouse1.07553749
148FOXM1_26456572_ChIP-Seq_MCF-7_Human1.07488155
149CTBP2_25329375_ChIP-Seq_LNCAP_Human1.07437318
150SOX2_18555785_Chip-Seq_ESCs_Mouse1.07047988
151KDM2B_26808549_Chip-Seq_DND41_Human1.07029909
152* SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.06534770
153RUNX1_22412390_ChIP-Seq_EML_Mouse1.06439250
154* SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.05960378
155* TP53_22127205_ChIP-Seq_IMR90_Human1.05127818
156SALL1_21062744_ChIP-ChIP_HESCs_Human1.04910051
157OCT4_18555785_Chip-Seq_ESCs_Mouse1.04808119
158GATA1_22025678_ChIP-Seq_K562_Human1.04050200
159SPI1_23547873_ChIP-Seq_NB4_Human1.03992792
160* NCOR1_26117541_ChIP-Seq_K562_Human1.03754906
161TCF4_23295773_ChIP-Seq_U87_Human1.03749919
162CMYC_18555785_Chip-Seq_ESCs_Mouse1.03426704
163ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.03376265
164AHR_22903824_ChIP-Seq_MCF-7_Human1.02592283
165ESR2_21235772_ChIP-Seq_MCF-7_Human1.02577348
166WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.02550965
167UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.02061133
168* MYB_26560356_Chip-Seq_TH2_Human1.02028322
169* PU_27001747_Chip-Seq_BMDM_Mouse1.01949370
170POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.01520355
171VDR_24787735_ChIP-Seq_THP-1_Human1.01330073
172KDM2B_26808549_Chip-Seq_SUP-B15_Human1.00976972
173SMAD1_18555785_Chip-Seq_ESCs_Mouse0.99469982
174ESR1_15608294_ChIP-ChIP_MCF-7_Human0.99165681
175NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.98961479
176ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.98891492
177POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.98636927
178TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98636927
179SCL_19346495_ChIP-Seq_HPC-7_Human0.96762459
180RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.96571650
181NR3C1_21868756_ChIP-Seq_MCF10A_Human0.96356731
182SPI1_23127762_ChIP-Seq_K562_Human0.94338329
183* KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.94013619
184HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.92345143
185UTX_26944678_Chip-Seq_JUKART_Human0.91449620
186ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.90528770

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen5.27668840
2MP0002102_abnormal_ear_morphology5.11721688
3MP0008057_abnormal_DNA_replication4.34523777
4MP0000372_irregular_coat_pigmentation4.09196937
5MP0005171_absent_coat_pigmentation4.03192902
6MP0003136_yellow_coat_color3.47769347
7MP0003705_abnormal_hypodermis_morpholog3.39614171
8MP0000015_abnormal_ear_pigmentation3.22919939
9MP0002877_abnormal_melanocyte_morpholog3.16891538
10MP0005503_abnormal_tendon_morphology3.01526619
11MP0010307_abnormal_tumor_latency2.82637143
12MP0000371_diluted_coat_color2.82325962
13MP0005075_abnormal_melanosome_morpholog2.71071171
14MP0010094_abnormal_chromosome_stability2.67065464
15MP0005623_abnormal_meninges_morphology2.63594149
16MP0001299_abnormal_eye_distance/2.62509969
17MP0010352_gastrointestinal_tract_polyps2.58367118
18MP0005076_abnormal_cell_differentiation2.52878975
19MP0005377_hearing/vestibular/ear_phenot2.43610640
20MP0003878_abnormal_ear_physiology2.43610640
21MP0005275_abnormal_skin_tensile2.42057887
22MP0004185_abnormal_adipocyte_glucose2.33808613
23MP0003195_calcinosis2.30860966
24MP0000569_abnormal_digit_pigmentation2.21774508
25MP0002060_abnormal_skin_morphology2.03812057
26MP0005058_abnormal_lysosome_morphology2.03162972
27MP0004133_heterotaxia2.01496603
28MP0009278_abnormal_bone_marrow1.99296380
29MP0003566_abnormal_cell_adhesion1.97970010
30MP0004272_abnormal_basement_membrane1.97686041
31MP0004381_abnormal_hair_follicle1.94199761
32MP0003045_fibrosis1.93481208
33MP0003448_altered_tumor_morphology1.90422693
34MP0005174_abnormal_tail_pigmentation1.89105052
35MP0003453_abnormal_keratinocyte_physiol1.83451244
36MP0003091_abnormal_cell_migration1.83131489
37MP0005670_abnormal_white_adipose1.81113622
38MP0000733_abnormal_muscle_development1.75780246
39MP0002938_white_spotting1.75049866
40MP0001293_anophthalmia1.74513511
41MP0003279_aneurysm1.72696849
42MP0001324_abnormal_eye_pigmentation1.72212212
43MP0005023_abnormal_wound_healing1.71234281
44MP0006082_CNS_inflammation1.69211494
45MP0005451_abnormal_body_composition1.66269277
46MP0005408_hypopigmentation1.66234266
47MP0003436_decreased_susceptibility_to1.64925827
48MP0002095_abnormal_skin_pigmentation1.64917553
49MP0004885_abnormal_endolymph1.63121484
50MP0000858_altered_metastatic_potential1.61784417
51MP0006292_abnormal_olfactory_placode1.61602718
52* MP0003077_abnormal_cell_cycle1.58933802
53MP0002075_abnormal_coat/hair_pigmentati1.58822322
54MP0005666_abnormal_adipose_tissue1.53761709
55MP0003111_abnormal_nucleus_morphology1.51251913
56MP0004130_abnormal_muscle_cell1.46004421
57MP0001958_emphysema1.43973703
58MP0003300_gastrointestinal_ulcer1.43077663
59MP0005248_abnormal_Harderian_gland1.41204101
60MP0008058_abnormal_DNA_repair1.40635013
61MP0005508_abnormal_skeleton_morphology1.39564437
62MP0000427_abnormal_hair_cycle1.38522932
63MP0008007_abnormal_cellular_replicative1.34583228
64MP0001533_abnormal_skeleton_physiology1.34382980
65MP0003890_abnormal_embryonic-extraembry1.33663456
66MP0003937_abnormal_limbs/digits/tail_de1.28709706
67MP0005375_adipose_tissue_phenotype1.27790610
68MP0005257_abnormal_intraocular_pressure1.27449934
69MP0003172_abnormal_lysosome_physiology1.26740275
70MP0004947_skin_inflammation1.24573346
71MP0002697_abnormal_eye_size1.23756534
72MP0005390_skeleton_phenotype1.23271662
73MP0003935_abnormal_craniofacial_develop1.22606864
74MP0002168_other_aberrant_phenotype1.19550789
75MP0000003_abnormal_adipose_tissue1.19449303
76* MP0001545_abnormal_hematopoietic_system1.18947309
77* MP0005397_hematopoietic_system_phenotyp1.18947309
78MP0001286_abnormal_eye_development1.15808318
79MP0003303_peritoneal_inflammation1.15352482
80MP0001243_abnormal_dermal_layer1.15335478
81MP0001186_pigmentation_phenotype1.14599811
82MP0000685_abnormal_immune_system1.13609605
83MP0000343_altered_response_to1.13365211
84MP0001915_intracranial_hemorrhage1.13086806
85MP0003385_abnormal_body_wall1.11926942
86MP0009333_abnormal_splenocyte_physiolog1.11711000
87* MP0001697_abnormal_embryo_size1.10383648
88MP0010678_abnormal_skin_adnexa1.10261536
89MP0005391_vision/eye_phenotype1.08836314
90MP0009697_abnormal_copulation1.08294152
91MP0003724_increased_susceptibility_to1.07423174
92MP0002419_abnormal_innate_immunity1.07007727
93MP0002006_tumorigenesis1.06554970
94MP0010234_abnormal_vibrissa_follicle1.06373196
95MP0003137_abnormal_impulse_conducting1.05374028
96MP0004808_abnormal_hematopoietic_stem1.03744666
97MP0005000_abnormal_immune_tolerance1.02970299
98MP0000631_abnormal_neuroendocrine_gland1.02418711
99MP0009785_altered_susceptibility_to1.01392685
100MP0002089_abnormal_postnatal_growth/wei1.00459433
101MP0002233_abnormal_nose_morphology1.00426109
102MP0000383_abnormal_hair_follicle1.00228468
103MP0005164_abnormal_response_to0.98940950
104MP0004233_abnormal_muscle_weight0.97483678
105* MP0003755_abnormal_palate_morphology0.96875893
106MP0002933_joint_inflammation0.96847707
107MP0001835_abnormal_antigen_presentation0.96840251
108MP0002998_abnormal_bone_remodeling0.94802430
109MP0005187_abnormal_penis_morphology0.94746927
110MP0001661_extended_life_span0.93835885
111MP0000428_abnormal_craniofacial_morphol0.93715575
112MP0000647_abnormal_sebaceous_gland0.93324299
113MP0003828_pulmonary_edema0.92542354
114MP0002452_abnormal_antigen_presenting0.92326655
115MP0000750_abnormal_muscle_regeneration0.91878005
116* MP0004197_abnormal_fetal_growth/weight/0.91798099
117MP0000534_abnormal_ureter_morphology0.89277140
118MP0003941_abnormal_skin_development0.89032756
119MP0005197_abnormal_uvea_morphology0.88365660
120MP0002751_abnormal_autonomic_nervous0.88338290
121* MP0002084_abnormal_developmental_patter0.87960728
122MP0006054_spinal_hemorrhage0.85823341
123MP0004957_abnormal_blastocyst_morpholog0.85469634
124MP0003950_abnormal_plasma_membrane0.85271990
125MP0009115_abnormal_fat_cell0.85027134
126MP0001790_abnormal_immune_system0.84825689
127MP0005387_immune_system_phenotype0.84825689
128MP0001849_ear_inflammation0.84294111
129MP0010030_abnormal_orbit_morphology0.84176970
130MP0002009_preneoplasia0.81968784
131MP0005367_renal/urinary_system_phenotyp0.81943130
132MP0000516_abnormal_urinary_system0.81943130
133MP0002166_altered_tumor_susceptibility0.81394949
134MP0000767_abnormal_smooth_muscle0.80931904
135MP0001614_abnormal_blood_vessel0.80802113
136* MP0005621_abnormal_cell_physiology0.80084273
137MP0004510_myositis0.79560415
138MP0002108_abnormal_muscle_morphology0.79378248
139MP0000490_abnormal_crypts_of0.79032402
140MP0003718_maternal_effect0.77959632
141MP0000627_abnormal_mammary_gland0.77805217
142MP0001191_abnormal_skin_condition0.76449753
143* MP0001672_abnormal_embryogenesis/_devel0.76090372
144* MP0005380_embryogenesis_phenotype0.76090372
145MP0005266_abnormal_metabolism0.75469014
146MP0000432_abnormal_head_morphology0.75078150
147MP0003795_abnormal_bone_structure0.74951456
148MP0001800_abnormal_humoral_immune0.74502121
149MP0001175_abnormal_lung_morphology0.74012563
150* MP0002085_abnormal_embryonic_tissue0.73799805
151MP0002896_abnormal_bone_mineralization0.73552006
152MP0003656_abnormal_erythrocyte_physiolo0.73543909
153MP0005025_abnormal_response_to0.73414726
154MP0003806_abnormal_nucleotide_metabolis0.73353240
155MP0001542_abnormal_bone_strength0.73191996
156MP0000538_abnormal_urinary_bladder0.70469583
157MP0002925_abnormal_cardiovascular_devel0.70393582
158* MP0002088_abnormal_embryonic_growth/wei0.69995021
159MP0002723_abnormal_immune_serum0.69113193
160MP0002092_abnormal_eye_morphology0.68323384
161MP0002090_abnormal_vision0.68155381
162MP0002396_abnormal_hematopoietic_system0.67354768
163MP0005193_abnormal_anterior_eye0.66867372
164MP0003943_abnormal_hepatobiliary_system0.66824837
165MP0002405_respiratory_system_inflammati0.66598327
166MP0003786_premature_aging0.66577753
167MP0000470_abnormal_stomach_morphology0.65984168
168MP0002086_abnormal_extraembryonic_tissu0.65877221
169MP0005464_abnormal_platelet_physiology0.65685761
170MP0000249_abnormal_blood_vessel0.65644408
171MP0001819_abnormal_immune_cell0.64252693
172* MP0000350_abnormal_cell_proliferation0.64169225
173MP0010155_abnormal_intestine_physiology0.63857319
174* MP0003984_embryonic_growth_retardation0.63803875
175MP0002148_abnormal_hypersensitivity_rea0.63781319
176MP0002177_abnormal_outer_ear0.61153684
177MP0002332_abnormal_exercise_endurance0.58238666
178MP0002269_muscular_atrophy0.58034113
179MP0003942_abnormal_urinary_system0.57451828
180MP0005395_other_phenotype0.56825160
181MP0005253_abnormal_eye_physiology0.56369792
182MP0003186_abnormal_redox_activity0.55550764

Predicted human phenotypes

RankGene SetZ-score
1Ankle contracture (HP:0006466)6.98556198
2Protrusio acetabuli (HP:0003179)6.65347971
3Anterior segment dysgenesis (HP:0007700)5.36058041
4Iris hypopigmentation (HP:0007730)5.09061485
5Premature rupture of membranes (HP:0001788)4.95811315
6Hypoplasia of the iris (HP:0007676)4.70511795
7Cervical subluxation (HP:0003308)4.64731517
8Anal stenosis (HP:0002025)4.61183417
9Vertebral compression fractures (HP:0002953)4.41808693
10Follicular hyperkeratosis (HP:0007502)4.38073332
11Cerebral aneurysm (HP:0004944)4.22298552
12Ocular albinism (HP:0001107)3.82125335
13Chromosomal breakage induced by crosslinking agents (HP:0003221)3.61539294
14Broad metatarsal (HP:0001783)3.58616493
15Myocardial infarction (HP:0001658)3.58102749
16Type 1 muscle fiber predominance (HP:0003803)3.57860198
17Freckling (HP:0001480)3.57241049
18Slender build (HP:0001533)3.52956393
19Ependymoma (HP:0002888)3.49509583
20Spinal rigidity (HP:0003306)3.46143686
21Increased connective tissue (HP:0009025)3.43696106
22Abnormality of chromosome stability (HP:0003220)3.42989538
23Intestinal atresia (HP:0011100)3.40277649
24Soft skin (HP:0000977)3.35189506
25Chromsome breakage (HP:0040012)3.33992003
26Atrophic scars (HP:0001075)3.29362052
27Shallow orbits (HP:0000586)3.29240663
28Aplasia/Hypoplasia of the uvula (HP:0010293)3.16130956
29Osteolytic defects of the phalanges of the hand (HP:0009771)3.14316046
30Osteolytic defects of the hand bones (HP:0009699)3.14316046
31Wrist flexion contracture (HP:0001239)3.13495607
32Abnormality of the ileum (HP:0001549)3.13464121
33Peritonitis (HP:0002586)3.13048164
34Glioma (HP:0009733)3.07689639
35Birth length less than 3rd percentile (HP:0003561)3.06289007
36Patchy hypopigmentation of hair (HP:0011365)3.05410694
37Meckel diverticulum (HP:0002245)3.00454245
38Cutaneous melanoma (HP:0012056)2.95314077
39Albinism (HP:0001022)2.92523413
40White forelock (HP:0002211)2.85318801
41Neonatal short-limb short stature (HP:0008921)2.84234290
42Hypopigmentation of the fundus (HP:0007894)2.82278679
43Progressive inability to walk (HP:0002505)2.65571360
44Aortic dissection (HP:0002647)2.61676343
45Megalocornea (HP:0000485)2.61520908
46Anal atresia (HP:0002023)2.59192097
47Entropion (HP:0000621)2.57151829
48Genu recurvatum (HP:0002816)2.54544859
49Astigmatism (HP:0000483)2.53102727
50Abnormality of dentin (HP:0010299)2.52898449
51Duodenal stenosis (HP:0100867)2.51207169
52Small intestinal stenosis (HP:0012848)2.51207169
53Mildly elevated creatine phosphokinase (HP:0008180)2.50232761
54Abnormality of the preputium (HP:0100587)2.49490400
55Bladder diverticulum (HP:0000015)2.47838653
56Fragile skin (HP:0001030)2.45150465
57Poikiloderma (HP:0001029)2.43212457
58Growth hormone deficiency (HP:0000824)2.42951158
59Squamous cell carcinoma (HP:0002860)2.42869815
60Blue sclerae (HP:0000592)2.41450582
61Increased cerebral lipofuscin (HP:0011813)2.41154154
62Turricephaly (HP:0000262)2.40322879
63Aplasia/Hypoplasia of the lens (HP:0008063)2.40018886
64Dilatation of the ascending aorta (HP:0005111)2.38962129
65Wormian bones (HP:0002645)2.37835146
66Clubbing of toes (HP:0100760)2.36305321
67Biconcave vertebral bodies (HP:0004586)2.35518158
68Abnormal auditory evoked potentials (HP:0006958)2.34490164
69Abnormality of the duodenum (HP:0002246)2.33945675
70Abnormality of DNA repair (HP:0003254)2.29728897
71Hematochezia (HP:0002573)2.29421275
72Upper limb amyotrophy (HP:0009129)2.28105717
73Distal upper limb amyotrophy (HP:0007149)2.28105717
74Abnormality of the anterior chamber (HP:0000593)2.27766228
75Tetraparesis (HP:0002273)2.26420820
76Abnormality of the acetabulum (HP:0003170)2.25501578
77Skin nodule (HP:0200036)2.23768836
78Generalized amyotrophy (HP:0003700)2.23737718
79Hand muscle atrophy (HP:0009130)2.23073035
80Aneurysm (HP:0002617)2.22878726
81Ulnar bowing (HP:0003031)2.22679408
82Congenital glaucoma (HP:0001087)2.21628298
83Elbow flexion contracture (HP:0002987)2.19328138
84Nephroblastoma (Wilms tumor) (HP:0002667)2.19265608
85Embryonal renal neoplasm (HP:0011794)2.18557327
86Mitral valve prolapse (HP:0001634)2.18040696
87Breech presentation (HP:0001623)2.17883749
88Recurrent abscess formation (HP:0002722)2.17275763
89Sloping forehead (HP:0000340)2.13999766
90Aplasia/Hypoplasia of the tibia (HP:0005772)2.12841931
91Chronic hepatic failure (HP:0100626)2.12563796
92Gastrointestinal atresia (HP:0002589)2.11807915
93Distal lower limb amyotrophy (HP:0008944)2.11479689
94Abnormality of the carotid arteries (HP:0005344)2.11332159
95Leiomyosarcoma (HP:0100243)2.11223264
96Uterine leiomyosarcoma (HP:0002891)2.11223264
97Blue irides (HP:0000635)2.10348691
98Steatorrhea (HP:0002570)2.09116430
99Abnormality of alanine metabolism (HP:0010916)2.07412803
100Hyperalaninemia (HP:0003348)2.07412803
101Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.07412803
102Increased variability in muscle fiber diameter (HP:0003557)2.06044748
103Syringomyelia (HP:0003396)2.05479146
104Spinal cord lesions (HP:0100561)2.05479146
105Joint laxity (HP:0001388)2.04497538
106Abnormality of the line of Schwalbe (HP:0008048)2.02924848
107Transitional cell carcinoma of the bladder (HP:0006740)2.02577388
108* Melanoma (HP:0002861)2.02213677
109Abnormality of the labia majora (HP:0012881)2.00010011
110Rectal fistula (HP:0100590)1.99729588
111Rectovaginal fistula (HP:0000143)1.99729588
112* Neoplasm of the adrenal cortex (HP:0100641)1.97863330
113Congenital primary aphakia (HP:0007707)1.97657139
114Hypoplastic labia majora (HP:0000059)1.96221601
115Protruding ear (HP:0000411)1.96198973
116Poor coordination (HP:0002370)1.96186507
117Hyperextensible skin (HP:0000974)1.94760322
118Bladder carcinoma (HP:0002862)1.93497508
119Bladder neoplasm (HP:0009725)1.93497508
120Medial flaring of the eyebrow (HP:0010747)1.92677677
121Volvulus (HP:0002580)1.92350241
122Increased neuronal autofluorescent lipopigment (HP:0002074)1.92182707
123Pancreatic cysts (HP:0001737)1.92178062
124Posterior embryotoxon (HP:0000627)1.92004848
125Alopecia of scalp (HP:0002293)1.91345632
126Abnormality of the astrocytes (HP:0100707)1.90772800
127Astrocytoma (HP:0009592)1.90772800
128Meningioma (HP:0002858)1.90650246
129Aortic aneurysm (HP:0004942)1.89628639
130Abnormality of skeletal muscle fiber size (HP:0012084)1.89311600
131Elevated erythrocyte sedimentation rate (HP:0003565)1.89304576
132Hamartoma of the eye (HP:0010568)1.87696970
133Enlarged penis (HP:0000040)1.87690214
134Subacute progressive viral hepatitis (HP:0006572)1.87537192
135Orchitis (HP:0100796)1.87311462
136Short nail (HP:0001799)1.86931755
137Aqueductal stenosis (HP:0002410)1.84597632
138Aplasia/Hypoplasia of the fovea (HP:0008060)1.83291386
139Hypoplasia of the fovea (HP:0007750)1.83291386
140Small hand (HP:0200055)1.83277831
141Abnormal delivery (HP:0001787)1.82689437
142Nephrogenic diabetes insipidus (HP:0009806)1.81695974
143Abnormality of the nasal septum (HP:0000419)1.81066726
144Femoral bowing (HP:0002980)1.79609069
145Eczematoid dermatitis (HP:0000976)1.78954067
146Aplasia/Hypoplasia involving the musculature (HP:0001460)1.78836182
147Hereditary nonpolyposis colorectal carcinoma (HP:0006716)1.77958580
148Reduced subcutaneous adipose tissue (HP:0003758)1.77737975
149Gaze-evoked nystagmus (HP:0000640)1.77099780
150Nonimmune hydrops fetalis (HP:0001790)1.76902394
151Nausea (HP:0002018)1.76881653
152Septo-optic dysplasia (HP:0100842)1.76667205
153Molar tooth sign on MRI (HP:0002419)1.76615077
154Abnormality of midbrain morphology (HP:0002418)1.76615077
155Gait imbalance (HP:0002141)1.76351400
156Inability to walk (HP:0002540)1.75862047
157Generalized hypopigmentation (HP:0007513)1.75412851
158Spondylolisthesis (HP:0003302)1.75188576
159Long clavicles (HP:0000890)1.75088458
160Acanthosis nigricans (HP:0000956)1.73747760
161Urethral obstruction (HP:0000796)1.73575203
162Abnormality of the calcaneus (HP:0008364)1.73422461
163Vaginal fistula (HP:0004320)1.72831574
164Tibial bowing (HP:0002982)1.72681027
165Hypothermia (HP:0002045)1.72029318
166Genital tract atresia (HP:0001827)1.71832699
167Bell-shaped thorax (HP:0001591)1.71226730
168Intestinal fistula (HP:0100819)1.69277329
169Bowel diverticulosis (HP:0005222)1.69224525
170Malignant gastrointestinal tract tumors (HP:0006749)1.69089724
171Gastrointestinal carcinoma (HP:0002672)1.69089724
172Hypobetalipoproteinemia (HP:0003563)1.68768826
173Cerebellar dysplasia (HP:0007033)1.68712733
174Thick nail (HP:0001805)1.67950134
175Bowed forearm bones (HP:0003956)1.67786283
176Bowing of the arm (HP:0006488)1.67786283
177Limb-girdle muscle weakness (HP:0003325)1.67740029
178Delayed closure of the anterior fontanelle (HP:0001476)1.67716074
179Recurrent bacterial skin infections (HP:0005406)1.67203099
180Myositis (HP:0100614)1.66570807
181Dysostosis multiplex (HP:0000943)1.66512839
182Camptodactyly of toe (HP:0001836)1.65438503
183Arterial tortuosity (HP:0005116)1.65227402
184Abnormality of macrophages (HP:0004311)1.65103886
185Decreased subcutaneous fat (HP:0001002)1.64904389
186Deviation of the hallux (HP:0010051)1.61413196
187Tarsal synostosis (HP:0008368)1.61181405
188Vascular tortuosity (HP:0004948)1.60923107
189Abnormality of the peritoneum (HP:0002585)1.60390415
190Absent frontal sinuses (HP:0002688)1.59808794
191Coxa vara (HP:0002812)1.59559137
192Radial bowing (HP:0002986)1.57695716
193Vacuolated lymphocytes (HP:0001922)1.57537387
194Buphthalmos (HP:0000557)1.54378918
195Abnormality of skull ossification (HP:0002703)1.54224605

Predicted kinase interactions (KEA)

RankGene SetZ-score
1WEE14.47873558
2TRIM283.89719673
3EIF2AK33.67934728
4BMPR1B3.57683266
5PKN23.27873899
6ERN13.14586344
7TRIB33.00956611
8PDGFRA2.85757426
9MAP3K142.74221031
10CDK122.59843973
11BRD42.58998762
12DDR22.54480335
13SIK32.52659121
14TTN2.39809660
15BCR2.28039643
16ERBB32.25081952
17BMX2.14871374
18EPHA22.11697143
19STK38L1.99593583
20RIPK11.96395726
21JAK31.95054515
22FLT31.94910552
23LATS11.93675483
24TBK11.92325016
25EIF2AK11.90026782
26MKNK21.89062616
27RPS6KA41.86610105
28IKBKB1.76071122
29PIM21.74378246
30AKT31.73651957
31PNCK1.73263881
32CAMK1D1.61932494
33SIK11.57305080
34STK31.53516787
35CHUK1.50609762
36NUAK11.48163363
37TRPM71.45168110
38BMPR21.41113445
39CDK61.37886780
40PTK61.37143317
41PDGFRB1.35132850
42STK101.32752274
43TYK21.30972118
44LATS21.30584528
45STK391.29884551
46CHEK21.27223562
47PAK21.26605465
48MST41.26207910
49BUB11.25921844
50NEK91.25009903
51PTK21.24947744
52JAK11.23937009
53MET1.22775504
54CSNK1G11.21227989
55KIT1.19893000
56CDK91.19200958
57WNK31.18744125
58PLK31.16147643
59MTOR1.16004244
60MAP3K101.13811593
61MUSK1.12724261
62FRK1.12382267
63PLK41.11432846
64NEK11.10719931
65MKNK11.08094021
66EIF2AK21.07205071
67IRAK31.05383492
68PINK11.05113681
69PAK41.03550106
70SCYL21.02540730
71TESK11.00826430
72IKBKE1.00422664
73FER0.98063556
74KSR10.97926835
75FGFR20.97393197
76NEK20.95976196
77CASK0.94260059
78MAP3K30.94092969
79ZAK0.92399482
80EPHB10.91698348
81WNK40.87314436
82MST1R0.85639783
83TTK0.85209345
84LRRK20.85079383
85EEF2K0.84071634
86CDK70.83429895
87TYRO30.82727897
88FGFR10.80896093
89FGFR30.80491489
90DYRK1B0.80386916
91PAK30.78821135
92NEK60.78396539
93TSSK60.77724756
94TAF10.77080121
95* PLK10.76441074
96* PIM10.75789454
97AKT20.74809346
98MAP3K80.74431381
99HCK0.74391754
100MAP2K10.73672960
101GRK10.73642486
102STK40.72913174
103* ATM0.72534316
104CAMKK20.71389922
105ABL20.70249039
106MOS0.69790425
107CSF1R0.69076771
108ADRBK10.68407566
109CSNK1A1L0.67902009
110PRKCI0.66924463
111FGFR40.66047481
112PBK0.65209159
113YES10.64833606
114TNIK0.64551623
115MAP3K50.64474893
116* ATR0.62675633
117CSNK1G20.61272278
118INSR0.60782208
119CAMK1G0.59146622
120ERBB40.57442687
121ICK0.57170379
122ZAP700.55954252
123MELK0.54853669
124* ABL10.54198126
125FGR0.53587113
126TGFBR20.53275934
127NME20.52841497
128CSK0.52234044
129TAOK20.52191239
130MAP2K30.51617239
131CHEK10.50875149
132ACVR1B0.50713251
133MAPK10.49380430
134EGFR0.48942291
135ALK0.46705256
136ADRBK20.45981710
137CSNK1G30.44595433
138IRAK40.44412279
139* RPS6KB10.43882815
140JAK20.42084916
141GSK3A0.41876651
142TAOK30.41735472
143PLK20.40744558
144PDK20.39174668
145PRKAA10.39167686
146LCK0.39141505
147NLK0.39054617
148PRKCE0.38752904
149CSNK1A10.38688000
150CDK40.36926559
151MARK30.36832965
152RET0.36651360
153BRSK20.36591247
154MAP3K130.34687280
155SRPK10.34667086
156ITK0.34103556
157PAK10.34052693
158TGFBR10.32776252
159CDK30.32672608
160STK380.32159520
161CAMKK10.30987542
162CDK10.28557103
163MAPKAPK50.26967910
164PRKACB0.24648014
165SGK20.24302367
166OXSR10.23036618
167CDK80.22924415
168* PRKDC0.22286569
169PAK60.22039928
170PIK3CA0.21649486

Predicted pathways (KEGG)

RankGene SetZ-score
1Non-homologous end-joining_Homo sapiens_hsa034504.12899131
2Fanconi anemia pathway_Homo sapiens_hsa034603.45645121
3Selenocompound metabolism_Homo sapiens_hsa004503.08284479
4Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.99313053
5Protein export_Homo sapiens_hsa030602.72673088
6Homologous recombination_Homo sapiens_hsa034402.62498554
7Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.56041890
8Primary bile acid biosynthesis_Homo sapiens_hsa001202.42565882
9* p53 signaling pathway_Homo sapiens_hsa041152.20829590
10ECM-receptor interaction_Homo sapiens_hsa045122.14468564
11Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.12915756
12Small cell lung cancer_Homo sapiens_hsa052222.09823309
13Leishmaniasis_Homo sapiens_hsa051402.05969002
14NF-kappa B signaling pathway_Homo sapiens_hsa040642.03314234
15Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.02021550
16TNF signaling pathway_Homo sapiens_hsa046681.99879236
17AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.89184060
18Basal transcription factors_Homo sapiens_hsa030221.85523724
19Malaria_Homo sapiens_hsa051441.83788225
20Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.83148945
21Legionellosis_Homo sapiens_hsa051341.83100119
22Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.80996517
23* Chronic myeloid leukemia_Homo sapiens_hsa052201.76772960
24RNA transport_Homo sapiens_hsa030131.74736987
25Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.73950520
26RNA degradation_Homo sapiens_hsa030181.71422610
27Focal adhesion_Homo sapiens_hsa045101.68619131
28* MicroRNAs in cancer_Homo sapiens_hsa052061.67301464
29* Bladder cancer_Homo sapiens_hsa052191.67252265
30Osteoclast differentiation_Homo sapiens_hsa043801.66264999
31Apoptosis_Homo sapiens_hsa042101.63916889
32Toll-like receptor signaling pathway_Homo sapiens_hsa046201.62620109
33* Proteoglycans in cancer_Homo sapiens_hsa052051.58144041
34NOD-like receptor signaling pathway_Homo sapiens_hsa046211.57518356
35Lysosome_Homo sapiens_hsa041421.57258531
36Amoebiasis_Homo sapiens_hsa051461.57159285
37Measles_Homo sapiens_hsa051621.54734397
38Mismatch repair_Homo sapiens_hsa034301.54559013
39Nucleotide excision repair_Homo sapiens_hsa034201.52982556
40Toxoplasmosis_Homo sapiens_hsa051451.50916543
41Pancreatic cancer_Homo sapiens_hsa052121.46502568
42Tuberculosis_Homo sapiens_hsa051521.44956920
43Shigellosis_Homo sapiens_hsa051311.40668950
44* Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.37706248
45Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.33022221
46Propanoate metabolism_Homo sapiens_hsa006401.31747597
47Hepatitis B_Homo sapiens_hsa051611.27968974
48One carbon pool by folate_Homo sapiens_hsa006701.27554621
49Leukocyte transendothelial migration_Homo sapiens_hsa046701.24868572
50Phagosome_Homo sapiens_hsa041451.23535033
51Influenza A_Homo sapiens_hsa051641.22525181
52HIF-1 signaling pathway_Homo sapiens_hsa040661.22247960
53Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.21283425
54Glycosaminoglycan degradation_Homo sapiens_hsa005311.20308103
55Vitamin B6 metabolism_Homo sapiens_hsa007501.20016597
56* Viral carcinogenesis_Homo sapiens_hsa052031.18747792
57Viral myocarditis_Homo sapiens_hsa054161.17856255
58Acute myeloid leukemia_Homo sapiens_hsa052211.17400758
59Adherens junction_Homo sapiens_hsa045201.14819166
60Nitrogen metabolism_Homo sapiens_hsa009101.14159535
61Herpes simplex infection_Homo sapiens_hsa051681.11312205
62HTLV-I infection_Homo sapiens_hsa051661.11187903
63Rheumatoid arthritis_Homo sapiens_hsa053231.10362837
64* Melanoma_Homo sapiens_hsa052181.10172554
65mTOR signaling pathway_Homo sapiens_hsa041501.08827173
66Adipocytokine signaling pathway_Homo sapiens_hsa049201.08748780
67* Prostate cancer_Homo sapiens_hsa052151.08652383
68Caffeine metabolism_Homo sapiens_hsa002321.08200250
69Proteasome_Homo sapiens_hsa030501.08139720
70B cell receptor signaling pathway_Homo sapiens_hsa046621.07440509
71Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.04178875
72Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.03529901
73Pertussis_Homo sapiens_hsa051331.02680999
74* PI3K-Akt signaling pathway_Homo sapiens_hsa041511.01386919
75RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.01372822
76Central carbon metabolism in cancer_Homo sapiens_hsa052301.00934625
77Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.00122493
78Salmonella infection_Homo sapiens_hsa051320.99155015
79Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.95640492
80Hepatitis C_Homo sapiens_hsa051600.95116905
81Sphingolipid metabolism_Homo sapiens_hsa006000.93403581
82Graft-versus-host disease_Homo sapiens_hsa053320.93262649
83Steroid biosynthesis_Homo sapiens_hsa001000.92842656
84Renal cell carcinoma_Homo sapiens_hsa052110.92597742
85* Glioma_Homo sapiens_hsa052140.92092642
86Antigen processing and presentation_Homo sapiens_hsa046120.91115528
87N-Glycan biosynthesis_Homo sapiens_hsa005100.90771912
88Regulation of actin cytoskeleton_Homo sapiens_hsa048100.90264639
89Longevity regulating pathway - mammal_Homo sapiens_hsa042110.90249922
90Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.87719704
91Jak-STAT signaling pathway_Homo sapiens_hsa046300.87479236
92RNA polymerase_Homo sapiens_hsa030200.87033970
93Staphylococcus aureus infection_Homo sapiens_hsa051500.86703669
94Tyrosine metabolism_Homo sapiens_hsa003500.86692686
95* Pathways in cancer_Homo sapiens_hsa052000.85144329
96Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.84697401
97Butanoate metabolism_Homo sapiens_hsa006500.83156866
98Other glycan degradation_Homo sapiens_hsa005110.82325029
99TGF-beta signaling pathway_Homo sapiens_hsa043500.82236012
100Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.81647284
101Oocyte meiosis_Homo sapiens_hsa041140.81444740
102Allograft rejection_Homo sapiens_hsa053300.80300750
103mRNA surveillance pathway_Homo sapiens_hsa030150.79753768
104DNA replication_Homo sapiens_hsa030300.79737376
105Insulin resistance_Homo sapiens_hsa049310.79533405
106Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.78466470
107Notch signaling pathway_Homo sapiens_hsa043300.77574956
108Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.77487431
109Hematopoietic cell lineage_Homo sapiens_hsa046400.77377454
110Neurotrophin signaling pathway_Homo sapiens_hsa047220.77140459
111Intestinal immune network for IgA production_Homo sapiens_hsa046720.77088377
112Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.76893711
113PPAR signaling pathway_Homo sapiens_hsa033200.76860541
114Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.74350110
115* Cell cycle_Homo sapiens_hsa041100.73888127
116Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.73877657
117* FoxO signaling pathway_Homo sapiens_hsa040680.73807446
118Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.73183942
119Non-small cell lung cancer_Homo sapiens_hsa052230.72503050
120beta-Alanine metabolism_Homo sapiens_hsa004100.72205214
121* Epstein-Barr virus infection_Homo sapiens_hsa051690.70305514
122Hippo signaling pathway_Homo sapiens_hsa043900.67365497
123Chemokine signaling pathway_Homo sapiens_hsa040620.67175046
124Platelet activation_Homo sapiens_hsa046110.65290500
125* Transcriptional misregulation in cancer_Homo sapiens_hsa052020.64339643
126Protein digestion and absorption_Homo sapiens_hsa049740.62386348
127Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.61982241
128Circadian rhythm_Homo sapiens_hsa047100.61782339
129Type II diabetes mellitus_Homo sapiens_hsa049300.61271666
130Thyroid cancer_Homo sapiens_hsa052160.60672218
131Colorectal cancer_Homo sapiens_hsa052100.58672036
132Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.58493213
133Cysteine and methionine metabolism_Homo sapiens_hsa002700.58160230
134Tryptophan metabolism_Homo sapiens_hsa003800.57455487
135Steroid hormone biosynthesis_Homo sapiens_hsa001400.57259981
136Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.57107885
137Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.57054425
138Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.57037813
139Prolactin signaling pathway_Homo sapiens_hsa049170.56330817
140Peroxisome_Homo sapiens_hsa041460.55871628
141Pyruvate metabolism_Homo sapiens_hsa006200.55081460
142Endometrial cancer_Homo sapiens_hsa052130.55018058
143Tight junction_Homo sapiens_hsa045300.54395752
144AMPK signaling pathway_Homo sapiens_hsa041520.54102692
145T cell receptor signaling pathway_Homo sapiens_hsa046600.52983044
146VEGF signaling pathway_Homo sapiens_hsa043700.52778966
147Lysine degradation_Homo sapiens_hsa003100.51936100
148Hedgehog signaling pathway_Homo sapiens_hsa043400.51833904
149Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.51219312
150Basal cell carcinoma_Homo sapiens_hsa052170.48978454
151Inositol phosphate metabolism_Homo sapiens_hsa005620.48972553
152Regulation of autophagy_Homo sapiens_hsa041400.48581947
153Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.48542721
154Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.47634421
155Phototransduction_Homo sapiens_hsa047440.46008047
156Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.45133918
157Melanogenesis_Homo sapiens_hsa049160.42760132
158Histidine metabolism_Homo sapiens_hsa003400.41398111
159Systemic lupus erythematosus_Homo sapiens_hsa053220.40850098
160Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.38523896
161Ether lipid metabolism_Homo sapiens_hsa005650.37721016
162ABC transporters_Homo sapiens_hsa020100.36607428
163Pyrimidine metabolism_Homo sapiens_hsa002400.35880341
164Taste transduction_Homo sapiens_hsa047420.34002326
165Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.33285175
166Alcoholism_Homo sapiens_hsa050340.33095699
167Collecting duct acid secretion_Homo sapiens_hsa049660.32164505
168Wnt signaling pathway_Homo sapiens_hsa043100.30857329
169Glutathione metabolism_Homo sapiens_hsa004800.29055010
170Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.28248452
171Dorso-ventral axis formation_Homo sapiens_hsa043200.27774436

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