ERCC5

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 single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1gonadal mesoderm development (GO:0007506)7.38358992
2positive regulation of gamma-delta T cell activation (GO:0046645)5.96271582
3gap junction assembly (GO:0016264)5.65780864
4negative regulation of cell killing (GO:0031342)5.50102370
5negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.50102370
6regulation of B cell receptor signaling pathway (GO:0050855)5.30109298
7antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.18481857
8positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)5.09158458
9ganglion development (GO:0061548)4.92113373
10negative T cell selection (GO:0043383)4.85665416
11adenine nucleotide transport (GO:0051503)4.82548867
12negative thymic T cell selection (GO:0045060)4.82371963
13myelin assembly (GO:0032288)4.76389863
14purine ribonucleotide transport (GO:0015868)4.73420466
15atrial cardiac muscle cell action potential (GO:0086014)4.72749974
16regulation of development, heterochronic (GO:0040034)4.69807922
17regulation of timing of cell differentiation (GO:0048505)4.64530716
18regulation of tight junction assembly (GO:2000810)4.54852365
19regulation of gamma-delta T cell activation (GO:0046643)4.51123426
20positive T cell selection (GO:0043368)4.48257946
21antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.47950288
22regulation of gamma-delta T cell differentiation (GO:0045586)4.45630892
23antigen processing and presentation of endogenous antigen (GO:0019883)4.37213069
24positive thymic T cell selection (GO:0045059)4.32519526
25negative regulation of heart growth (GO:0061117)4.29783671
26negative regulation of cardiac muscle tissue growth (GO:0055022)4.29783671
27purine nucleotide transport (GO:0015865)4.26815697
28antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.18049586
29positive regulation of granulocyte differentiation (GO:0030854)4.10943688
30phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)4.10740846
31B cell receptor signaling pathway (GO:0050853)3.99955804
32T cell selection (GO:0045058)3.99885246
33negative regulation of T cell mediated immunity (GO:0002710)3.88601554
34activated T cell proliferation (GO:0050798)3.86001302
35histone H4-K8 acetylation (GO:0043982)3.85901555
36histone H4-K5 acetylation (GO:0043981)3.85901555
37carnitine metabolic process (GO:0009437)3.75553771
38paraxial mesoderm development (GO:0048339)3.75347604
39leukocyte aggregation (GO:0070486)3.74785136
40negative regulation of lymphocyte mediated immunity (GO:0002707)3.74078495
41positive regulation by symbiont of host defense response (GO:0052509)3.73113880
42modulation by symbiont of host defense response (GO:0052031)3.73113880
43modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.73113880
44modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.73113880
45positive regulation by organism of defense response of other organism involved in symbiotic interact3.73113880
46modulation by symbiont of host immune response (GO:0052553)3.73113880
47thymic T cell selection (GO:0045061)3.71764941
48cellular extravasation (GO:0045123)3.70931105
49response to interleukin-15 (GO:0070672)3.68390265
50planar cell polarity pathway involved in neural tube closure (GO:0090179)3.67523419
51detection of other organism (GO:0098543)3.67480194
52lateral sprouting from an epithelium (GO:0060601)3.64924547
53G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071993.60308240
54negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.57196056
55negative regulation of T-helper cell differentiation (GO:0045623)3.56512549
56negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)3.56512549
57detection of bacterium (GO:0016045)3.56364191
58regulation of alpha-beta T cell proliferation (GO:0046640)3.54447885
59positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.53628580
60regulation of B cell differentiation (GO:0045577)3.48652215
61outflow tract septum morphogenesis (GO:0003148)3.47766499
62regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.47389652
63positive regulation of B cell differentiation (GO:0045579)3.46825006
64regulation of gene silencing by RNA (GO:0060966)3.46232147
65regulation of posttranscriptional gene silencing (GO:0060147)3.46232147
66regulation of gene silencing by miRNA (GO:0060964)3.46232147
67negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)3.44693143
68endothelium development (GO:0003158)3.43646250
69kidney morphogenesis (GO:0060993)3.40678147
70regulation of male gonad development (GO:2000018)3.40408461
71T cell migration (GO:0072678)3.38972821
72positive regulation of male gonad development (GO:2000020)3.38580858
73macrophage activation involved in immune response (GO:0002281)3.37263169
74cellular response to interleukin-15 (GO:0071350)3.35342145
75negative regulation of erythrocyte differentiation (GO:0045647)3.34810919
76craniofacial suture morphogenesis (GO:0097094)3.34726225
77regulation of granulocyte differentiation (GO:0030852)3.33341235
78regulation of regulatory T cell differentiation (GO:0045589)3.32546400
79neutrophil activation involved in immune response (GO:0002283)3.30794069
80negative regulation of leukocyte mediated immunity (GO:0002704)3.27979204
81regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.27284117
82regulation of T cell tolerance induction (GO:0002664)3.26933368
83regulation of tolerance induction (GO:0002643)3.26096856
84negative regulation of cardiac muscle tissue development (GO:0055026)3.21412473
85positive regulation of alpha-beta T cell proliferation (GO:0046641)3.20469470
86response to muramyl dipeptide (GO:0032495)3.19598627
87negative regulation of interleukin-12 production (GO:0032695)3.19230764
88positive regulation of tolerance induction (GO:0002645)3.17987438
89regulation of interferon-beta biosynthetic process (GO:0045357)3.15940187
90regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.15840616
91presynaptic membrane assembly (GO:0097105)3.14909007
92cell communication by electrical coupling (GO:0010644)3.14792797
93response to peptidoglycan (GO:0032494)3.13264486
94detection of external biotic stimulus (GO:0098581)3.11282462
95negative regulation of adaptive immune response based on somatic recombination of immune receptors b3.09585159
96Arp2/3 complex-mediated actin nucleation (GO:0034314)3.07483814
97cranial suture morphogenesis (GO:0060363)3.07365612
98mature B cell differentiation (GO:0002335)3.07259704
99amino-acid betaine metabolic process (GO:0006577)3.06007408
100antigen receptor-mediated signaling pathway (GO:0050851)3.03762091
101chondrocyte proliferation (GO:0035988)3.03514461
102tolerance induction (GO:0002507)3.02392674
103epithelial cell maturation (GO:0002070)3.02144438
104macroautophagy (GO:0016236)3.01619517
105postsynaptic membrane organization (GO:0001941)2.99888217
106mature B cell differentiation involved in immune response (GO:0002313)2.99133692
107negative regulation of astrocyte differentiation (GO:0048712)2.99057455
108microglial cell activation (GO:0001774)2.96802457
109positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.96278504
110negative regulation of adaptive immune response (GO:0002820)2.94945778
111germinal center formation (GO:0002467)2.94764969
112hippo signaling (GO:0035329)2.94698000
113immunoglobulin mediated immune response (GO:0016064)2.93758858
114detection of molecule of bacterial origin (GO:0032490)2.91732176
115regulation of helicase activity (GO:0051095)2.91292240
116regulation of glomerular filtration (GO:0003093)2.89496926
117calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.88657532
118negative regulation of smoothened signaling pathway (GO:0045879)2.88562062
119negative regulation of glycoprotein biosynthetic process (GO:0010561)2.87923031
120regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.87426814
121regulation of interleukin-2 biosynthetic process (GO:0045076)2.86368137
122response to type I interferon (GO:0034340)2.82056527
123T cell homeostasis (GO:0043029)2.81711116
124defense response to protozoan (GO:0042832)2.80889679
125cellular response to type I interferon (GO:0071357)2.80882879
126type I interferon signaling pathway (GO:0060337)2.80882879
127replicative senescence (GO:0090399)2.80281517
128notochord development (GO:0030903)2.80183904
129neuron cell-cell adhesion (GO:0007158)2.79635379
130mucosal-associated lymphoid tissue development (GO:0048537)2.78885010
131Peyers patch development (GO:0048541)2.78885010
132macrophage activation (GO:0042116)2.78285366
133regulation of dendritic cell antigen processing and presentation (GO:0002604)2.78093740
134mast cell activation (GO:0045576)2.77843582
135embryonic camera-type eye development (GO:0031076)2.77532870
136histone H4-K16 acetylation (GO:0043984)2.76693112
137regulation of necroptotic process (GO:0060544)2.76192290
138positive regulation of SMAD protein import into nucleus (GO:0060391)2.76113712
139regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.75859690
140negative regulation of alpha-beta T cell activation (GO:0046636)2.75752686
141adult heart development (GO:0007512)2.75517209
142neutrophil activation (GO:0042119)2.75393343
143interferon-gamma-mediated signaling pathway (GO:0060333)2.75122080
144myeloid cell activation involved in immune response (GO:0002275)2.75085362
145interferon-gamma production (GO:0032609)2.74390916
146histone H3-K9 demethylation (GO:0033169)2.73400043
147regulation of T-helper 2 cell differentiation (GO:0045628)2.73256095
148T cell receptor signaling pathway (GO:0050852)2.72886303
149negative regulation of stem cell proliferation (GO:2000647)2.70885444
150response to hepatocyte growth factor (GO:0035728)2.70092187
151cellular response to hepatocyte growth factor stimulus (GO:0035729)2.70092187
152regulation of alpha-beta T cell activation (GO:0046634)2.69585383
153protein heterotetramerization (GO:0051290)2.69222925
154positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.68569935
155negative regulation of granulocyte differentiation (GO:0030853)2.68335118
156positive regulation of T cell differentiation in thymus (GO:0033089)2.68108447
157negative regulation of DNA-dependent DNA replication (GO:2000104)2.67836801
158nucleoside transport (GO:0015858)2.67116686
159cochlea morphogenesis (GO:0090103)2.66553805
160regulation of interleukin-12 biosynthetic process (GO:0045075)2.65787955
161oligosaccharide catabolic process (GO:0009313)2.65753299
162cytoplasmic mRNA processing body assembly (GO:0033962)2.65642473
163negative regulation of cAMP-mediated signaling (GO:0043951)2.63911881
164T cell costimulation (GO:0031295)2.63402125
165regulation of T-helper 1 cell differentiation (GO:0045625)2.63392432
166detection of biotic stimulus (GO:0009595)2.63062134
167insulin-like growth factor receptor signaling pathway (GO:0048009)2.62425735
168regulation of intracellular estrogen receptor signaling pathway (GO:0033146)2.61853447
169cornea development in camera-type eye (GO:0061303)2.57282165
170negative regulation of chondrocyte differentiation (GO:0032331)2.56972268
171regulation of mitotic spindle organization (GO:0060236)2.55916056
172serine family amino acid catabolic process (GO:0009071)2.52320778
173chondrocyte development (GO:0002063)2.52048100
174cardiac right ventricle morphogenesis (GO:0003215)2.50566362
175nuclear pore complex assembly (GO:0051292)2.48751478
176embryonic digit morphogenesis (GO:0042733)2.47588302
177reflex (GO:0060004)2.47228780
178neurotransmitter-gated ion channel clustering (GO:0072578)2.46290613
179artery development (GO:0060840)2.44782097
180convergent extension (GO:0060026)2.43287366
181regulation of Rac GTPase activity (GO:0032314)2.42325779
182innervation (GO:0060384)2.40563951
183spliceosomal tri-snRNP complex assembly (GO:0000244)2.39533976
184pituitary gland development (GO:0021983)2.39187934
185negative regulation of cartilage development (GO:0061037)2.39116665
186embryonic cranial skeleton morphogenesis (GO:0048701)2.38524694
187nuclear pore organization (GO:0006999)2.36032904
188negative regulation of hormone biosynthetic process (GO:0032353)2.35447425
189negative regulation of hormone metabolic process (GO:0032351)2.35447425
190regulation of cell fate specification (GO:0042659)2.34946192
191polarized epithelial cell differentiation (GO:0030859)2.34822737
192pre-miRNA processing (GO:0031054)2.32700044
193glandular epithelial cell development (GO:0002068)2.29979672
194positive regulation of neural precursor cell proliferation (GO:2000179)2.29799632
195positive regulation of fatty acid beta-oxidation (GO:0032000)2.29567984
196regulation of secondary heart field cardioblast proliferation (GO:0003266)2.29189192
197regulation of cardioblast proliferation (GO:0003264)2.29189192
198Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.28291417
199folic acid-containing compound biosynthetic process (GO:0009396)2.28076539
200positive regulation of neuroblast proliferation (GO:0002052)2.27869151

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human5.96078904
2STAT6_20620947_ChIP-Seq_CD4_POS_T_Human5.04232273
3FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.78679570
4RBPJ_22232070_ChIP-Seq_NCS_Mouse4.47775839
5SALL1_21062744_ChIP-ChIP_HESCs_Human3.73183464
6GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.50393025
7MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.45571532
8RUNX_20019798_ChIP-Seq_JUKART_Human3.34923447
9IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.27908016
10IRF8_21731497_ChIP-ChIP_J774_Mouse3.21989576
11* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.96669768
12MYB_26560356_Chip-Seq_TH2_Human2.96582400
13STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.93720485
14IRF8_27001747_Chip-Seq_BMDM_Mouse2.89149892
15TP63_17297297_ChIP-ChIP_HaCaT_Human2.83151936
16GBX2_23144817_ChIP-Seq_PC3_Human2.82750421
17FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.81872722
18BP1_19119308_ChIP-ChIP_Hs578T_Human2.70526638
19SCL_19346495_ChIP-Seq_HPC-7_Human2.69200314
20IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.63542904
21MYB_26560356_Chip-Seq_TH1_Human2.49822503
22HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse2.40913118
23AR_21572438_ChIP-Seq_LNCaP_Human2.39316808
24* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.38627927
25MAF_26560356_Chip-Seq_TH1_Human2.34701329
26MYB_21317192_ChIP-Seq_ERMYB_Mouse2.34198291
27SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.33005517
28* SPI1_23547873_ChIP-Seq_NB4_Human2.31110781
29VDR_21846776_ChIP-Seq_THP-1_Human2.30275630
30ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.29454091
31* CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.27488016
32E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.24583530
33VDR_24763502_ChIP-Seq_THP-1_Human2.22510013
34* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.21275632
35EGR1_19374776_ChIP-ChIP_THP-1_Human2.15318283
36GATA3_27048872_Chip-Seq_THYMUS_Human2.14573411
37UTX_26944678_Chip-Seq_JUKART_Human2.14153394
38STAT4_19710469_ChIP-ChIP_TH1__Mouse2.08079561
39WT1_19549856_ChIP-ChIP_CCG9911_Human2.03380110
40VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.99446192
41MYC_22102868_ChIP-Seq_BL_Human1.96195776
42SPI1_23127762_ChIP-Seq_K562_Human1.95223194
43SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.94613470
44FUS_26573619_Chip-Seq_HEK293_Human1.91091274
45RUNX1_22412390_ChIP-Seq_EML_Mouse1.90746211
46PIAS1_25552417_ChIP-Seq_VCAP_Human1.89676123
47TRIM28_21343339_ChIP-Seq_HEK293_Human1.85853119
48SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.85419337
49RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.84301971
50SOX2_18555785_ChIP-Seq_MESCs_Mouse1.84110714
51NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.81418570
52VDR_24787735_ChIP-Seq_THP-1_Human1.78501162
53TP63_19390658_ChIP-ChIP_HaCaT_Human1.74605189
54* MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.73391263
55* BRD4_27068464_Chip-Seq_AML-cells_Mouse1.72699080
56* ELF1_17652178_ChIP-ChIP_JURKAT_Human1.71511357
57FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.69211767
58MAF_26560356_Chip-Seq_TH2_Human1.69175052
59ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.68959924
60* TP53_20018659_ChIP-ChIP_R1E_Mouse1.66537435
61TCF7_22412390_ChIP-Seq_EML_Mouse1.64827629
62SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.64002353
63Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.63693039
64TP53_16413492_ChIP-PET_HCT116_Human1.63054231
65* KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.61963488
66BCAT_22108803_ChIP-Seq_LS180_Human1.60917559
67POU5F1_16153702_ChIP-ChIP_HESCs_Human1.60832920
68GATA3_26560356_Chip-Seq_TH2_Human1.60099223
69BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.57895914
70AHR_22903824_ChIP-Seq_MCF-7_Human1.55421094
71GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.53355729
72SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.52312702
73TBX3_20139965_ChIP-Seq_ESCs_Mouse1.51028955
74AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.50380629
75TBX3_20139965_ChIP-Seq_MESCs_Mouse1.49941016
76ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.49271427
77SMAD_19615063_ChIP-ChIP_OVARY_Human1.48392134
78TCF4_18268006_ChIP-ChIP_LS174T_Human1.47260833
79ISL1_27105846_Chip-Seq_CPCs_Mouse1.46371323
80KDM2B_26808549_Chip-Seq_DND41_Human1.46242327
81GATA1_22025678_ChIP-Seq_K562_Human1.45829128
82HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.45498450
83TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.45254902
84ZNF217_24962896_ChIP-Seq_MCF-7_Human1.44428865
85IRF1_19129219_ChIP-ChIP_H3396_Human1.44055098
86TCF3_18692474_ChIP-Seq_MESCs_Mouse1.42200916
87LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.41490408
88KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.39419909
89CJUN_26792858_Chip-Seq_BT549_Human1.39391835
90* STAT3_23295773_ChIP-Seq_U87_Human1.39210338
91E2F7_22180533_ChIP-Seq_HELA_Human1.38311445
92GATA1_19941827_ChIP-Seq_MEL_Mouse1.38258574
93FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.38045543
94ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.37631023
95KDM2B_26808549_Chip-Seq_SUP-B15_Human1.37520732
96GATA1_19941826_ChIP-Seq_K562_Human1.37018989
97SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.36586673
98ARNT_22903824_ChIP-Seq_MCF-7_Human1.36159118
99TP53_18474530_ChIP-ChIP_U2OS_Human1.33817659
100GATA2_22383799_ChIP-Seq_G1ME_Mouse1.32711060
101PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.31149869
102POU3F2_20337985_ChIP-ChIP_501MEL_Human1.30254916
103SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.29918716
104RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.29718012
105* PU_27001747_Chip-Seq_BMDM_Mouse1.28697986
106POU5F1_18347094_ChIP-ChIP_MESCs_Mouse1.28250341
107TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.27043117
108POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.27043117
109TCF3_18692474_ChIP-Seq_MEFs_Mouse1.26730713
110GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.26142251
111NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.25726566
112TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.25275163
113CIITA_25753668_ChIP-Seq_RAJI_Human1.23600758
114PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.22724468
115RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.22669149
116NR3C1_21868756_ChIP-Seq_MCF10A_Human1.22607251
117LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.21217928
118RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.20541762
119SMAD3_21741376_ChIP-Seq_EPCs_Human1.18624056
120SALL4_18804426_ChIP-ChIP_XEN_Mouse1.18338516
121TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.17839086
122SMAD4_21799915_ChIP-Seq_A2780_Human1.17760862
123ESR1_20079471_ChIP-ChIP_T-47D_Human1.17340317
124POU5F1_16518401_ChIP-PET_MESCs_Mouse1.16844805
125BRD4_25478319_ChIP-Seq_HGPS_Human1.15603507
126STAT6_21828071_ChIP-Seq_BEAS2B_Human1.15515246
127NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.15213775
128PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.15083829
129EWS_26573619_Chip-Seq_HEK293_Human1.14479363
130P300_19829295_ChIP-Seq_ESCs_Human1.13777639
131GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.13400978
132NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.12797801
133GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.12531541
134GATA2_19941826_ChIP-Seq_K562_Human1.11521310
135* SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.11351575
136CTBP2_25329375_ChIP-Seq_LNCAP_Human1.11291608
137* FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.10225381
138CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.08335408
139SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.07796590
140RXR_22108803_ChIP-Seq_LS180_Human1.06998322
141PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.06089824
142SMRT_27268052_Chip-Seq_Bcells_Human1.05822092
143GATA2_21666600_ChIP-Seq_HMVEC_Human1.05639291
144ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.05373324
145EED_16625203_ChIP-ChIP_MESCs_Mouse1.04593106
146EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.04485096
147SOX9_26525672_Chip-Seq_HEART_Mouse1.03641634
148AR_25329375_ChIP-Seq_VCAP_Human1.03430813
149KDM2B_26808549_Chip-Seq_JURKAT_Human1.03371899
150TBL1_22424771_ChIP-Seq_293T_Human1.01469697
151SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.01156153
152NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.00996801
153CLOCK_20551151_ChIP-Seq_293T_Human1.00357913
154TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.00265291
155CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.99951218
156YAP1_20516196_ChIP-Seq_MESCs_Mouse0.99862503
157TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.99663749
158* TCF4_23295773_ChIP-Seq_U87_Human0.99065935
159SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.99031415
160TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.98868814
161MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.98174272
162ER_23166858_ChIP-Seq_MCF-7_Human0.97608088
163NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.97572676
164* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.97338403
165SMAD4_21741376_ChIP-Seq_HESCs_Human0.96844045
166GF1B_26923725_Chip-Seq_HPCs_Mouse0.96823577
167* CTNNB1_20460455_ChIP-Seq_HCT116_Human0.96697212
168* PCGF2_27294783_Chip-Seq_NPCs_Mouse0.96538717
169CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.95910386
170PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.95558802
171SOX2_16153702_ChIP-ChIP_HESCs_Human0.95346373
172NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.94841815
173CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.94488011
174PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.94296084
175* TP53_23651856_ChIP-Seq_MEFs_Mouse0.93548317
176* SUZ12_27294783_Chip-Seq_NPCs_Mouse0.93530967
177LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92127545
178PPAR_26484153_Chip-Seq_NCI-H1993_Human0.91389083
179ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.91251275
180EP300_21415370_ChIP-Seq_HL-1_Mouse0.91138228
181STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.89820364
182GATA1_22383799_ChIP-Seq_G1ME_Mouse0.84872125
183FOXO3_23340844_ChIP-Seq_DLD1_Human0.84465879
184* RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.83664750
185GATA1_19941827_ChIP-Seq_MEL86_Mouse0.83486199
186NCOR1_26117541_ChIP-Seq_K562_Human0.82597767
187STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.79973136
188CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.79612383
189PU.1_20513432_ChIP-Seq_Bcells_Mouse0.79072275
190BCL6_27268052_Chip-Seq_Bcells_Human0.76921489
191CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.72412387
192* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.70998859
193IKZF1_21737484_ChIP-ChIP_HCT116_Human0.68350749
194P300_27268052_Chip-Seq_Bcells_Human0.67757407
195SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.67334343
196BCOR_27268052_Chip-Seq_Bcells_Human0.66904244

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003724_increased_susceptibility_to4.17183735
2MP0009780_abnormal_chondrocyte_physiolo3.96617572
3MP0001835_abnormal_antigen_presentation3.76379295
4MP0003436_decreased_susceptibility_to3.58693327
5MP0003763_abnormal_thymus_physiology3.52334583
6MP0009384_cardiac_valve_regurgitation3.48759314
7MP0001800_abnormal_humoral_immune3.16104763
8MP0006292_abnormal_olfactory_placode3.11160990
9MP0005671_abnormal_response_to2.92469958
10MP0000569_abnormal_digit_pigmentation2.88870941
11MP0001790_abnormal_immune_system2.83159219
12MP0005387_immune_system_phenotype2.83159219
13MP0005248_abnormal_Harderian_gland2.80148622
14MP0009697_abnormal_copulation2.79283973
15MP0009053_abnormal_anal_canal2.78215237
16MP0005000_abnormal_immune_tolerance2.77468505
17MP0003303_peritoneal_inflammation2.76915495
18MP0003705_abnormal_hypodermis_morpholog2.74762726
19MP0000685_abnormal_immune_system2.73799580
20MP0003136_yellow_coat_color2.67494635
21MP0002723_abnormal_immune_serum2.59908221
22MP0000566_synostosis2.55822996
23MP0003941_abnormal_skin_development2.55520779
24MP0005025_abnormal_response_to2.52872831
25MP0002420_abnormal_adaptive_immunity2.51469373
26MP0002419_abnormal_innate_immunity2.49561708
27MP0002452_abnormal_antigen_presenting2.48419409
28MP0001819_abnormal_immune_cell2.45664200
29MP0009785_altered_susceptibility_to2.37272222
30MP0002148_abnormal_hypersensitivity_rea2.33972782
31MP0010030_abnormal_orbit_morphology2.33600570
32MP0003787_abnormal_imprinting2.25732913
33MP0002405_respiratory_system_inflammati2.18518488
34MP0010155_abnormal_intestine_physiology2.12390272
35MP0002398_abnormal_bone_marrow2.12374483
36MP0005464_abnormal_platelet_physiology2.08176983
37MP0000716_abnormal_immune_system1.98887108
38MP0003300_gastrointestinal_ulcer1.97927443
39MP0003279_aneurysm1.96939630
40MP0006082_CNS_inflammation1.92884068
41MP0003172_abnormal_lysosome_physiology1.91414694
42MP0000428_abnormal_craniofacial_morphol1.91008614
43MP0003828_pulmonary_edema1.89552727
44MP0002166_altered_tumor_susceptibility1.88827619
45MP0005257_abnormal_intraocular_pressure1.83945777
46MP0008438_abnormal_cutaneous_collagen1.82950226
47MP0002009_preneoplasia1.80887834
48* MP0000689_abnormal_spleen_morphology1.79876302
49MP0000703_abnormal_thymus_morphology1.76757908
50MP0009333_abnormal_splenocyte_physiolog1.74569449
51MP0003866_abnormal_defecation1.74382638
52MP0003191_abnormal_cellular_cholesterol1.74123399
53* MP0002722_abnormal_immune_system1.71896072
54MP0003183_abnormal_peptide_metabolism1.66084932
55MP0004947_skin_inflammation1.66011116
56MP0004858_abnormal_nervous_system1.65429576
57MP0001845_abnormal_inflammatory_respons1.65111256
58MP0001533_abnormal_skeleton_physiology1.65060760
59MP0003890_abnormal_embryonic-extraembry1.64679580
60MP0005623_abnormal_meninges_morphology1.62884714
61MP0008260_abnormal_autophagy1.55356336
62MP0002429_abnormal_blood_cell1.54448023
63MP0005503_abnormal_tendon_morphology1.54078102
64MP0002938_white_spotting1.53485104
65MP0002638_abnormal_pupillary_reflex1.52892399
66MP0002396_abnormal_hematopoietic_system1.51694012
67MP0001986_abnormal_taste_sensitivity1.50740008
68MP0003385_abnormal_body_wall1.49632377
69MP0005310_abnormal_salivary_gland1.48527717
70MP0000465_gastrointestinal_hemorrhage1.47240267
71MP0003121_genomic_imprinting1.45557672
72MP0004381_abnormal_hair_follicle1.44099622
73MP0001346_abnormal_lacrimal_gland1.44002410
74MP0010352_gastrointestinal_tract_polyps1.41197572
75MP0001851_eye_inflammation1.40493697
76MP0003755_abnormal_palate_morphology1.40176441
77MP0003806_abnormal_nucleotide_metabolis1.38225922
78MP0006072_abnormal_retinal_apoptosis1.34526414
79MP0003252_abnormal_bile_duct1.32177280
80MP0000432_abnormal_head_morphology1.29275066
81MP0008469_abnormal_protein_level1.27750770
82MP0003878_abnormal_ear_physiology1.27198820
83MP0005377_hearing/vestibular/ear_phenot1.27198820
84MP0001873_stomach_inflammation1.26077583
85MP0003942_abnormal_urinary_system1.25955284
86MP0002249_abnormal_larynx_morphology1.25597985
87MP0000750_abnormal_muscle_regeneration1.25273060
88MP0008057_abnormal_DNA_replication1.25026657
89MP0002233_abnormal_nose_morphology1.24505098
90MP0001853_heart_inflammation1.24253739
91MP0008789_abnormal_olfactory_epithelium1.24227588
92MP0009840_abnormal_foam_cell1.22382603
93MP0009764_decreased_sensitivity_to1.21350372
94MP0003011_delayed_dark_adaptation1.20109592
95MP0005409_darkened_coat_color1.19881951
96MP0005075_abnormal_melanosome_morpholog1.19823363
97MP0005508_abnormal_skeleton_morphology1.19431614
98MP0002132_abnormal_respiratory_system1.16510122
99MP0002933_joint_inflammation1.15616116
100MP0005197_abnormal_uvea_morphology1.15435452
101MP0000467_abnormal_esophagus_morphology1.14630590
102MP0002177_abnormal_outer_ear1.14264143
103MP0009278_abnormal_bone_marrow1.12122238
104MP0002006_tumorigenesis1.11195297
105MP0003937_abnormal_limbs/digits/tail_de1.10365858
106MP0003935_abnormal_craniofacial_develop1.10355408
107MP0002138_abnormal_hepatobiliary_system1.09136188
108MP0005058_abnormal_lysosome_morphology1.09062576
109MP0000049_abnormal_middle_ear1.08625219
110MP0001545_abnormal_hematopoietic_system1.08602087
111MP0005397_hematopoietic_system_phenotyp1.08602087
112MP0003091_abnormal_cell_migration1.08189133
113MP0001286_abnormal_eye_development1.08021931
114MP0001915_intracranial_hemorrhage1.07260837
115MP0002697_abnormal_eye_size1.06920776
116MP0004808_abnormal_hematopoietic_stem1.06492361
117MP0000516_abnormal_urinary_system1.05151497
118MP0005367_renal/urinary_system_phenotyp1.05151497
119MP0000733_abnormal_muscle_development1.04933949
120MP0002998_abnormal_bone_remodeling1.04893604
121MP0009250_abnormal_appendicular_skeleto1.04556193
122MP0000858_altered_metastatic_potential1.04382064
123MP0004130_abnormal_muscle_cell1.03677879
124MP0000534_abnormal_ureter_morphology1.03618860
125MP0001984_abnormal_olfaction1.03426260
126MP0000372_irregular_coat_pigmentation1.02919306
127* MP0003119_abnormal_digestive_system1.02013063
128MP0000015_abnormal_ear_pigmentation1.01717320
129MP0003718_maternal_effect1.01506270
130MP0004885_abnormal_endolymph1.01271244
131MP0004883_abnormal_blood_vessel1.00927174
132MP0002932_abnormal_joint_morphology0.99686178
133MP0002876_abnormal_thyroid_physiology0.99516607
134MP0002116_abnormal_craniofacial_bone0.98744191
135MP0002089_abnormal_postnatal_growth/wei0.98480821
136MP0004215_abnormal_myocardial_fiber0.98003639
137MP0004197_abnormal_fetal_growth/weight/0.96380373
138MP0002084_abnormal_developmental_patter0.96214425
139MP0005646_abnormal_pituitary_gland0.93703595
140MP0005174_abnormal_tail_pigmentation0.93366079
141MP0002109_abnormal_limb_morphology0.92586101
142MP0003122_maternal_imprinting0.92457398
143MP0009703_decreased_birth_body0.91435223
144MP0003115_abnormal_respiratory_system0.90467246
145MP0001502_abnormal_circadian_rhythm0.90269373
146MP0002896_abnormal_bone_mineralization0.88774223
147MP0009115_abnormal_fat_cell0.88314687
148MP0004272_abnormal_basement_membrane0.86365852
149MP0000762_abnormal_tongue_morphology0.86220061
150MP0000537_abnormal_urethra_morphology0.84375318
151MP0002111_abnormal_tail_morphology0.83567447
152MP0002282_abnormal_trachea_morphology0.83564562
153MP0001293_anophthalmia0.83541985
154MP0000647_abnormal_sebaceous_gland0.83369509
155MP0003938_abnormal_ear_development0.83220775
156MP0003566_abnormal_cell_adhesion0.83175213
157MP0005394_taste/olfaction_phenotype0.83145276
158MP0005499_abnormal_olfactory_system0.83145276
159MP0002139_abnormal_hepatobiliary_system0.81548736
160MP0003123_paternal_imprinting0.81386146
161MP0003656_abnormal_erythrocyte_physiolo0.80417456
162MP0005395_other_phenotype0.80037112
163MP0004133_heterotaxia0.79906756
164MP0010234_abnormal_vibrissa_follicle0.79045629
165MP0004233_abnormal_muscle_weight0.79024444
166MP0003045_fibrosis0.78914417
167MP0002108_abnormal_muscle_morphology0.78698874
168MP0005164_abnormal_response_to0.77858054
169MP0001663_abnormal_digestive_system0.75629340
170MP0003448_altered_tumor_morphology0.75271679
171MP0005187_abnormal_penis_morphology0.74870782
172MP0001919_abnormal_reproductive_system0.74830146
173MP0005670_abnormal_white_adipose0.74644963
174MP0001299_abnormal_eye_distance/0.73583540
175MP0005166_decreased_susceptibility_to0.73078704
176MP0002060_abnormal_skin_morphology0.72258988
177MP0005535_abnormal_body_temperature0.71601572
178MP0000249_abnormal_blood_vessel0.69616222
179MP0009763_increased_sensitivity_to0.69184421
180MP0009765_abnormal_xenobiotic_induced0.68401227
181MP0002019_abnormal_tumor_incidence0.66997025
182MP0000604_amyloidosis0.66777813
183MP0008874_decreased_physiological_sensi0.66045932
184MP0002971_abnormal_brown_adipose0.65574117
185MP0000609_abnormal_liver_physiology0.64298730
186MP0002136_abnormal_kidney_physiology0.63926171
187MP0003690_abnormal_glial_cell0.63568577
188MP0003453_abnormal_keratinocyte_physiol0.63057473
189MP0003075_altered_response_to0.59989545
190MP0005085_abnormal_gallbladder_physiolo0.57531102
191MP0005334_abnormal_fat_pad0.57116276
192MP0004185_abnormal_adipocyte_glucose0.56463283
193MP0005360_urolithiasis0.55966255
194MP0002133_abnormal_respiratory_system0.53942436
195MP0005388_respiratory_system_phenotype0.53942436

Predicted human phenotypes

RankGene SetZ-score
1Eczematoid dermatitis (HP:0000976)5.12195832
2Aplasia involving bones of the upper limbs (HP:0009823)5.06642883
3Aplasia of the phalanges of the hand (HP:0009802)5.06642883
4Aplasia involving bones of the extremities (HP:0009825)5.06642883
5Recurrent bacterial skin infections (HP:0005406)4.85114794
6Recurrent abscess formation (HP:0002722)4.57294962
7Abnormality of dentin (HP:0010299)4.49718365
8Elevated erythrocyte sedimentation rate (HP:0003565)4.49667919
9Myositis (HP:0100614)4.32500322
10Osteomalacia (HP:0002749)4.21655254
11Recurrent fungal infections (HP:0002841)4.21480342
12Mediastinal lymphadenopathy (HP:0100721)4.04909344
13T lymphocytopenia (HP:0005403)4.01628431
14Short middle phalanx of the 5th finger (HP:0004220)4.01419646
15Abnormal delayed hypersensitivity skin test (HP:0002963)3.96306366
16Stomatitis (HP:0010280)3.90800364
17Chronic mucocutaneous candidiasis (HP:0002728)3.89625699
18Recurrent cutaneous fungal infections (HP:0011370)3.89625699
19Abnormality of T cell number (HP:0011839)3.82388274
20Gastrointestinal infarctions (HP:0005244)3.71268231
21Meningitis (HP:0001287)3.64815122
22Panhypogammaglobulinemia (HP:0003139)3.62864322
23Hypoplastic labia majora (HP:0000059)3.62435877
24Abnormality of macrophages (HP:0004311)3.59100519
25Spontaneous hematomas (HP:0007420)3.57453059
26Recurrent skin infections (HP:0001581)3.55668678
27Orchitis (HP:0100796)3.51623207
28Optic neuritis (HP:0100653)3.48708389
29Retrobulbar optic neuritis (HP:0100654)3.48708389
30Recurrent gram-negative bacterial infections (HP:0005420)3.48618445
31Abnormality of permanent molar morphology (HP:0011071)3.36924180
32Abnormality of the dental root (HP:0006486)3.36924180
33Taurodontia (HP:0000679)3.36924180
34Selective tooth agenesis (HP:0001592)3.35625395
35Increased IgE level (HP:0003212)3.31334810
36Recurrent viral infections (HP:0004429)3.30616224
37Abnormality of molar (HP:0011077)3.29506529
38Abnormality of molar morphology (HP:0011070)3.29506529
39Encephalitis (HP:0002383)3.22197880
40Abnormality of the labia majora (HP:0012881)3.22196220
41Hepatoblastoma (HP:0002884)3.21655022
42Vasculitis (HP:0002633)3.20866250
43Abnormality of T cells (HP:0002843)3.20690432
44Obstructive lung disease (HP:0006536)3.17885402
45Chronic obstructive pulmonary disease (HP:0006510)3.17885402
46Autoimmune hemolytic anemia (HP:0001890)3.14422575
47Inflammation of the large intestine (HP:0002037)3.13600520
48Aplasia/Hypoplasia of the fovea (HP:0008060)3.08209602
49Hypoplasia of the fovea (HP:0007750)3.08209602
50Pustule (HP:0200039)3.05868949
51Hemoptysis (HP:0002105)3.05433149
52Pulmonary infiltrates (HP:0002113)3.03954194
53Colitis (HP:0002583)3.02638679
54Abnormality of the dental pulp (HP:0006479)3.00217479
55Severe combined immunodeficiency (HP:0004430)3.00187549
56Agammaglobulinemia (HP:0004432)2.99810795
57Gingivitis (HP:0000230)2.98896049
58Gastrointestinal inflammation (HP:0004386)2.97382601
59Prolonged bleeding time (HP:0003010)2.96484775
60Long nose (HP:0003189)2.93700342
61Leukocytosis (HP:0001974)2.92827243
62Neoplasm of the oral cavity (HP:0100649)2.91391081
63Recurrent bronchitis (HP:0002837)2.87559520
64Chest pain (HP:0100749)2.86127966
65Chronic hepatic failure (HP:0100626)2.78353859
66Epistaxis (HP:0000421)2.76366775
67Deep philtrum (HP:0002002)2.73765974
68Cutaneous syndactyly (HP:0012725)2.70943051
69Skin nodule (HP:0200036)2.63579840
70Granulocytopenia (HP:0001913)2.63410050
71Keratoconjunctivitis sicca (HP:0001097)2.63182244
72Short 5th finger (HP:0009237)2.61847860
73Pulmonary embolism (HP:0002204)2.61762117
74Chronic diarrhea (HP:0002028)2.60761200
75Lymphopenia (HP:0001888)2.59635433
76Gingival bleeding (HP:0000225)2.59631059
77Proximal tubulopathy (HP:0000114)2.58949549
78Birth length less than 3rd percentile (HP:0003561)2.57786268
79Autoimmune thrombocytopenia (HP:0001973)2.55452314
80Abnormality of T cell physiology (HP:0011840)2.54089250
81IgM deficiency (HP:0002850)2.53972885
82Urticaria (HP:0001025)2.53551050
83Papilledema (HP:0001085)2.51652117
84Cellulitis (HP:0100658)2.51199799
85Abnormality of the fovea (HP:0000493)2.50337642
86Buphthalmos (HP:0000557)2.47362539
87Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.47071332
88Abnormality of calcium-phosphate metabolism (HP:0100530)2.45271813
89Hypoplastic left heart (HP:0004383)2.43522158
90Combined immunodeficiency (HP:0005387)2.39632889
91Abnormality of eosinophils (HP:0001879)2.39345952
92Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)2.38432272
93Eosinophilia (HP:0001880)2.36412527
94Abnormality of cells of the lymphoid lineage (HP:0012140)2.34997417
95Hypoplasia of the thymus (HP:0000778)2.33458709
96Keratoconjunctivitis (HP:0001096)2.32308705
97Abnormality of the middle phalanx of the 5th finger (HP:0004219)2.30220985
98Long clavicles (HP:0000890)2.28967987
99Aplasia/Hypoplasia of the 5th finger (HP:0006262)2.28884396
100Aplasia/Hypoplasia of the macula (HP:0008059)2.28701514
101Osteomyelitis (HP:0002754)2.28680797
102Labial hypoplasia (HP:0000066)2.27655198
103Microcytic anemia (HP:0001935)2.26501600
104Verrucae (HP:0200043)2.24706404
105Papilloma (HP:0012740)2.24706404
106Thyroiditis (HP:0100646)2.24449763
107Short hallux (HP:0010109)2.23248213
108Arterial thrombosis (HP:0004420)2.19493590
109Hypergammaglobulinemia (HP:0010702)2.18734795
110Abnormality of B cell number (HP:0010975)2.18306076
111Abnormality of the prostate (HP:0008775)2.16787204
112Abnormality of homocysteine metabolism (HP:0010919)2.16068528
113Homocystinuria (HP:0002156)2.16068528
114Increased IgM level (HP:0003496)2.15983177
115Broad alveolar ridges (HP:0000187)2.13674725
116Recurrent sinusitis (HP:0011108)2.13089828
117Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)2.08845718
118Enlarged kidneys (HP:0000105)2.08587269
119Aplasia/Hypoplasia of the hallux (HP:0008362)2.07479667
120Cheilitis (HP:0100825)2.07276509
121Abnormality of the phalanges of the 5th finger (HP:0004213)2.05447602
122Abnormality of vitamin metabolism (HP:0100508)2.05137663
123IgG deficiency (HP:0004315)2.05012139
124Dry hair (HP:0011359)2.04726766
125Aplasia/Hypoplasia of the thymus (HP:0010515)2.04704007
126Mixed hearing impairment (HP:0000410)2.04595406
127Abnormality of the peritoneum (HP:0002585)2.04588126
128Hematochezia (HP:0002573)2.04498368
129Hypoplastic female external genitalia (HP:0012815)2.04236553
130Dysostosis multiplex (HP:0000943)2.02298265
131Tetraparesis (HP:0002273)2.01954307
132Abnormality of the vasculature of the conjunctiva (HP:0008054)2.00183276
133Neoplasm of the tracheobronchial system (HP:0100552)1.97322719
134Alveolar cell carcinoma (HP:0006519)1.97317699
135Skin ulcer (HP:0200042)1.96858148
136Occipital encephalocele (HP:0002085)1.96648697
137Sepsis (HP:0100806)1.96497238
138Median cleft lip (HP:0000161)1.96467370
139Short palpebral fissure (HP:0012745)1.96203255
140Gangrene (HP:0100758)1.96159857
141Abnormality of the pleura (HP:0002103)1.95852956
142Anorexia (HP:0002039)1.95065413
143Narrow nasal bridge (HP:0000446)1.94699504
144Hypochromic anemia (HP:0001931)1.94677407
145Abnormality of the labia minora (HP:0012880)1.93736133
146Cranial hyperostosis (HP:0004437)1.93352725
147Shallow orbits (HP:0000586)1.93046945
148Peritonitis (HP:0002586)1.92309261
149Periodontitis (HP:0000704)1.91641181
150Skin rash (HP:0000988)1.91612268
151Hypoplasia of dental enamel (HP:0006297)1.90926497
152Craniofacial hyperostosis (HP:0004493)1.89289537
153B lymphocytopenia (HP:0010976)1.88803290
154Viral hepatitis (HP:0006562)1.88242052
155Conjunctival telangiectasia (HP:0000524)1.87934603
156Thin ribs (HP:0000883)1.87023085
157Abnormality of nail color (HP:0100643)1.85863790
158Cortical dysplasia (HP:0002539)1.85363953
159Rickets (HP:0002748)1.84919296
160Onycholysis (HP:0001806)1.83990943
161Abnormality of the fingertips (HP:0001211)1.83755861
162Atelectasis (HP:0100750)1.83740272
163Hypoalphalipoproteinemia (HP:0003233)1.83230916
164* Everted lower lip vermilion (HP:0000232)1.83036962
165Abnormality of chromosome segregation (HP:0002916)1.81923903
166Premature loss of primary teeth (HP:0006323)1.81676006
167Aplasia/Hypoplasia affecting the retina (HP:0008061)1.80928409
168Episodic fever (HP:0001954)1.80467497
169Microglossia (HP:0000171)1.80121729
170Hypoplastic heart (HP:0001961)1.79179690
171Hypochromic microcytic anemia (HP:0004840)1.79132422
172Cutaneous finger syndactyly (HP:0010554)1.78640385
173Fatigue (HP:0012378)1.78037068
174Abnormality of the columella (HP:0009929)1.77218978
175Abnormal biliary tract physiology (HP:0012439)1.76080720
176Bile duct proliferation (HP:0001408)1.76080720
177Tracheomalacia (HP:0002779)1.75423459
178Thrombocytosis (HP:0001894)1.74783556
179Symptomatic seizures (HP:0011145)1.73305324
180Broad long bones (HP:0005622)1.73095941
181Furrowed tongue (HP:0000221)1.71523119
182Broad nasal tip (HP:0000455)1.67212992
183Vertebral arch anomaly (HP:0008438)1.66647525
184Abnormality of the labia (HP:0000058)1.66196196
185Maternal diabetes (HP:0009800)1.66140929
186Short 4th metacarpal (HP:0010044)1.65898426
187Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.65898426
188Short palm (HP:0004279)1.65043575
189Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843)1.62946939
190Renal tubular acidosis (HP:0001947)1.62418676
191Abnormality of the nasal septum (HP:0000419)1.60230445
192Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.59603502
193Vascular tortuosity (HP:0004948)1.59454565
194Corneal erosion (HP:0200020)1.57649016
195Slender long bone (HP:0003100)1.57204607
196Hypercholesterolemia (HP:0003124)1.57100930
197Short middle phalanx of finger (HP:0005819)1.57076916
198Abnormality of the antihelix (HP:0009738)1.56196541
199Hypoplasia of the maxilla (HP:0000327)1.55871846
200Asymmetry of the thorax (HP:0001555)1.55774433

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K14.08726743
2PIK3CG4.06698795
3RIPK43.96479880
4ZAK3.52738014
5LATS13.29667960
6MUSK3.21950938
7NEK63.18389238
8ERBB33.11811007
9TAOK33.03216988
10PIK3CA2.73281914
11FES2.63440839
12BLK2.57870259
13TXK2.56637109
14TYK22.50112343
15CDC72.47614829
16ZAP702.16178952
17MAP3K132.12533625
18MAPK72.09081484
19FGFR22.07587072
20BTK2.05668727
21CDK122.04457148
22CSK2.01909270
23TNK21.98206419
24GRK61.96146678
25FRK1.93460093
26EPHA21.89616288
27TEC1.87572149
28IKBKE1.85278222
29JAK31.85267492
30SYK1.84680055
31STK38L1.79306763
32ERN11.78123177
33CDK61.75551334
34MAP2K31.70780275
35PRPF4B1.70684702
36IRAK11.68275078
37ITK1.67150622
38BRD41.64854428
39AKT31.61674514
40EPHA31.58133073
41ERBB41.57816814
42MAP3K141.57585859
43INSRR1.57434952
44JAK11.56833249
45PDGFRA1.56305081
46BMPR21.54874616
47PAK31.53897759
48IRAK21.52460644
49MAPK121.46445551
50MET1.45742218
51IRAK41.45184796
52CSF1R1.43213082
53CAMKK21.42082814
54HCK1.40568825
55LCK1.35862812
56NLK1.34034199
57LYN1.32483139
58TBK11.28748834
59IKBKB1.28621974
60TGFBR21.26660454
61CSNK1D1.16282059
62KIT1.15836356
63YES11.15510587
64MTOR1.12871587
65BCR1.11056031
66FER1.09739394
67FGFR11.09202349
68ALK1.05697085
69TRPM71.04928349
70PDK11.04152712
71FGFR41.03177913
72JAK21.02746507
73MARK31.01302820
74PTK21.00243901
75STK30.98272900
76CDC42BPA0.96957141
77TTK0.94242865
78RPS6KA40.93329564
79MAP3K110.92390575
80MAP3K60.91827247
81CDK30.89545833
82SIK10.89506808
83MAP3K10.88995985
84WNK10.88898458
85PRKCQ0.87513276
86CASK0.87472369
87PRKAA10.86228009
88MARK20.86046398
89TTN0.84910914
90NTRK30.84435389
91PIM10.84107323
92ATR0.83353517
93MAP3K70.75918263
94ACVR1B0.75423847
95LATS20.74736571
96SIK20.73400792
97ERBB20.71447541
98MAPK110.71292866
99PDPK10.70015355
100PDGFRB0.69778621
101IGF1R0.69519173
102HIPK20.66503977
103FGR0.64886432
104ATM0.63632123
105STK380.62839980
106CAMKK10.61949253
107FGFR30.61649673
108PRKD30.61489457
109AKT10.61243019
110DYRK1B0.60677109
111PLK30.58238350
112CHEK10.57875753
113SRPK10.57343798
114PRKCG0.57087640
115RPS6KB20.56717213
116KSR20.56592613
117CAMK1D0.56287002
118EPHA40.56129868
119STK240.55854992
120MELK0.54199555
121SGK20.53072264
122MAP2K60.52961098
123MAPK10.51463920
124MATK0.51393739
125CDK40.51347433
126MAP2K20.51103301
127SGK10.50635732
128RPS6KL10.49646800
129RPS6KC10.49646800
130TRIB30.49604389
131PRKD10.49410016
132SGK4940.49292746
133SGK2230.49292746
134* CDK20.49238390
135INSR0.48470483
136FYN0.47871675
137STK110.47179381
138* CSNK1E0.47028165
139MAP3K20.46981492
140EEF2K0.46924475
141PRKDC0.46908486
142* MAPK140.46602408
143DYRK30.46183468
144EPHB10.45409509
145OBSCN0.45122839
146RPS6KA20.44729363
147PTK60.44650329
148* GSK3B0.44538756
149RPS6KA60.43835789
150PRKAA20.43062400
151SGK30.42619176
152MAP3K30.42565329
153NEK90.42517513
154MAP2K40.41633300
155ICK0.41372124
156PRKCE0.41370891
157IRAK30.41015735
158CHUK0.40502111
159AURKB0.40118273
160CDK90.39655433
161STK100.39515082
162DDR20.39460414
163MAPK80.39246518
164MAPK130.39028453
165PHKG20.38914746
166PHKG10.38914746
167NTRK20.38669300
168PASK0.38339634
169ABL10.38057443
170STK40.37528605
171MAP3K100.36776036
172RPS6KB10.36267067
173MAPK40.36109488
174MAPK150.35838622
175LRRK20.35566392
176CDK10.33806914

Predicted pathways (KEGG)

RankGene SetZ-score
1One carbon pool by folate_Homo sapiens_hsa006703.04237391
2Primary immunodeficiency_Homo sapiens_hsa053402.82597402
3Lysine degradation_Homo sapiens_hsa003102.75918030
4Graft-versus-host disease_Homo sapiens_hsa053322.61926748
5Non-homologous end-joining_Homo sapiens_hsa034502.54451701
6Allograft rejection_Homo sapiens_hsa053302.54175997
7B cell receptor signaling pathway_Homo sapiens_hsa046622.48803586
8Autoimmune thyroid disease_Homo sapiens_hsa053202.48524190
9Basal cell carcinoma_Homo sapiens_hsa052172.41850292
10Leishmaniasis_Homo sapiens_hsa051402.40567740
11Staphylococcus aureus infection_Homo sapiens_hsa051502.36909298
12Osteoclast differentiation_Homo sapiens_hsa043802.36674448
13Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.29104712
14Sphingolipid metabolism_Homo sapiens_hsa006002.22074798
15Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.19223426
16T cell receptor signaling pathway_Homo sapiens_hsa046602.17761432
17Intestinal immune network for IgA production_Homo sapiens_hsa046722.13456477
18Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.13159162
19Hippo signaling pathway_Homo sapiens_hsa043902.04779717
20NF-kappa B signaling pathway_Homo sapiens_hsa040642.01736368
21Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.95651469
22Primary bile acid biosynthesis_Homo sapiens_hsa001201.95393412
23NOD-like receptor signaling pathway_Homo sapiens_hsa046211.93594609
24Type I diabetes mellitus_Homo sapiens_hsa049401.89235659
25Asthma_Homo sapiens_hsa053101.82319226
26Hematopoietic cell lineage_Homo sapiens_hsa046401.81348199
27RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.80795336
28Circadian rhythm_Homo sapiens_hsa047101.80113227
29Measles_Homo sapiens_hsa051621.79010946
30Maturity onset diabetes of the young_Homo sapiens_hsa049501.73080689
31Arginine biosynthesis_Homo sapiens_hsa002201.71193964
32Tuberculosis_Homo sapiens_hsa051521.70412510
33MicroRNAs in cancer_Homo sapiens_hsa052061.70063941
34Hedgehog signaling pathway_Homo sapiens_hsa043401.67553386
35Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.67517285
36Toll-like receptor signaling pathway_Homo sapiens_hsa046201.63095981
37Fatty acid biosynthesis_Homo sapiens_hsa000611.62754578
38Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.62162346
39Antigen processing and presentation_Homo sapiens_hsa046121.59689588
40Fatty acid degradation_Homo sapiens_hsa000711.57280573
41Adherens junction_Homo sapiens_hsa045201.56646463
42Acute myeloid leukemia_Homo sapiens_hsa052211.55898281
43Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.55102381
44Inositol phosphate metabolism_Homo sapiens_hsa005621.53463431
45Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.51645942
46Steroid biosynthesis_Homo sapiens_hsa001001.48009880
47mRNA surveillance pathway_Homo sapiens_hsa030151.47142244
48p53 signaling pathway_Homo sapiens_hsa041151.46121058
49Jak-STAT signaling pathway_Homo sapiens_hsa046301.45909346
50Chemokine signaling pathway_Homo sapiens_hsa040621.41047448
51Small cell lung cancer_Homo sapiens_hsa052221.39089342
52Toxoplasmosis_Homo sapiens_hsa051451.38373249
53Influenza A_Homo sapiens_hsa051641.37669958
54Tryptophan metabolism_Homo sapiens_hsa003801.32729568
55Complement and coagulation cascades_Homo sapiens_hsa046101.30327674
56TGF-beta signaling pathway_Homo sapiens_hsa043501.29941858
57Herpes simplex infection_Homo sapiens_hsa051681.29140989
58Viral myocarditis_Homo sapiens_hsa054161.28634629
59Vitamin digestion and absorption_Homo sapiens_hsa049771.26430224
60Proteoglycans in cancer_Homo sapiens_hsa052051.24413851
61TNF signaling pathway_Homo sapiens_hsa046681.23509761
62ECM-receptor interaction_Homo sapiens_hsa045121.22546205
63Platelet activation_Homo sapiens_hsa046111.20040752
64Non-small cell lung cancer_Homo sapiens_hsa052231.18196089
65Malaria_Homo sapiens_hsa051441.18162651
66Phosphatidylinositol signaling system_Homo sapiens_hsa040701.16225842
67Wnt signaling pathway_Homo sapiens_hsa043101.15137971
68Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.14664860
69Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.14416994
70Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.13329959
71Hepatitis B_Homo sapiens_hsa051611.09151516
72Chemical carcinogenesis_Homo sapiens_hsa052041.09047164
73Thyroid hormone signaling pathway_Homo sapiens_hsa049191.05317284
74Steroid hormone biosynthesis_Homo sapiens_hsa001401.04252670
75Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.04063598
76Bile secretion_Homo sapiens_hsa049761.03655959
77Prolactin signaling pathway_Homo sapiens_hsa049171.03010438
78Melanoma_Homo sapiens_hsa052181.00699726
79Arginine and proline metabolism_Homo sapiens_hsa003301.00590375
80Tyrosine metabolism_Homo sapiens_hsa003501.00233196
81Dilated cardiomyopathy_Homo sapiens_hsa054140.98512221
82Hepatitis C_Homo sapiens_hsa051600.98151850
83Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.97745541
84Fatty acid metabolism_Homo sapiens_hsa012120.97225904
85Focal adhesion_Homo sapiens_hsa045100.94723756
86Endometrial cancer_Homo sapiens_hsa052130.94699191
87Tight junction_Homo sapiens_hsa045300.92898207
88Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.92131698
89Prostate cancer_Homo sapiens_hsa052150.90636467
90Cell cycle_Homo sapiens_hsa041100.90622241
91Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.90601032
92Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.89617440
93Rheumatoid arthritis_Homo sapiens_hsa053230.88818626
94Pancreatic cancer_Homo sapiens_hsa052120.85932467
95Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.85622166
96Phenylalanine metabolism_Homo sapiens_hsa003600.85381693
97Neurotrophin signaling pathway_Homo sapiens_hsa047220.83347810
98Leukocyte transendothelial migration_Homo sapiens_hsa046700.83283095
99Renal cell carcinoma_Homo sapiens_hsa052110.83255437
100Retinol metabolism_Homo sapiens_hsa008300.82285417
101Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.81804317
102Carbohydrate digestion and absorption_Homo sapiens_hsa049730.80813630
103African trypanosomiasis_Homo sapiens_hsa051430.80715625
104Pertussis_Homo sapiens_hsa051330.79782285
105mTOR signaling pathway_Homo sapiens_hsa041500.79527824
106VEGF signaling pathway_Homo sapiens_hsa043700.78886839
107PPAR signaling pathway_Homo sapiens_hsa033200.77427138
108Other glycan degradation_Homo sapiens_hsa005110.77169470
109Sphingolipid signaling pathway_Homo sapiens_hsa040710.76164718
110Glycosaminoglycan degradation_Homo sapiens_hsa005310.75966052
111Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.75295780
112Dorso-ventral axis formation_Homo sapiens_hsa043200.75097674
113PI3K-Akt signaling pathway_Homo sapiens_hsa041510.74664004
114Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.74500797
115Biosynthesis of amino acids_Homo sapiens_hsa012300.74302126
116Melanogenesis_Homo sapiens_hsa049160.74261785
117AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.73677552
118Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.73556296
119Nitrogen metabolism_Homo sapiens_hsa009100.73392419
120Bladder cancer_Homo sapiens_hsa052190.73292079
121Choline metabolism in cancer_Homo sapiens_hsa052310.73034929
122Apoptosis_Homo sapiens_hsa042100.72535676
123Phagosome_Homo sapiens_hsa041450.72504908
124Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.71704267
125Regulation of autophagy_Homo sapiens_hsa041400.71630306
126Selenocompound metabolism_Homo sapiens_hsa004500.71270278
127Pathways in cancer_Homo sapiens_hsa052000.70711084
128Insulin resistance_Homo sapiens_hsa049310.70646427
129ABC transporters_Homo sapiens_hsa020100.69618057
130Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.69191188
131Peroxisome_Homo sapiens_hsa041460.66019368
132Legionellosis_Homo sapiens_hsa051340.65696862
133AMPK signaling pathway_Homo sapiens_hsa041520.63919386
134Lysosome_Homo sapiens_hsa041420.63093041
135Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.62689360
136Olfactory transduction_Homo sapiens_hsa047400.62256070
137HTLV-I infection_Homo sapiens_hsa051660.62193585
138Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.61420865
139MAPK signaling pathway_Homo sapiens_hsa040100.60622194
140ErbB signaling pathway_Homo sapiens_hsa040120.60064020
141Phospholipase D signaling pathway_Homo sapiens_hsa040720.59585728
142Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.58719290
143FoxO signaling pathway_Homo sapiens_hsa040680.58281594
144Glycerophospholipid metabolism_Homo sapiens_hsa005640.58092905
145Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.57885320
146Basal transcription factors_Homo sapiens_hsa030220.57768691
147Shigellosis_Homo sapiens_hsa051310.57281946
148Central carbon metabolism in cancer_Homo sapiens_hsa052300.57056761
149GnRH signaling pathway_Homo sapiens_hsa049120.56635872
150Adipocytokine signaling pathway_Homo sapiens_hsa049200.55547069
151Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.54361347
152Epstein-Barr virus infection_Homo sapiens_hsa051690.53212309
153Long-term potentiation_Homo sapiens_hsa047200.53108656
154Endocytosis_Homo sapiens_hsa041440.51927767
155Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.51500379
156Transcriptional misregulation in cancer_Homo sapiens_hsa052020.51060760
157Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.48904241
158Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.47761783
159Propanoate metabolism_Homo sapiens_hsa006400.47102907
160Colorectal cancer_Homo sapiens_hsa052100.46480699
161Glioma_Homo sapiens_hsa052140.46376796
162Salmonella infection_Homo sapiens_hsa051320.46156954
163Prion diseases_Homo sapiens_hsa050200.45721384
164Caffeine metabolism_Homo sapiens_hsa002320.45400549
165Type II diabetes mellitus_Homo sapiens_hsa049300.45187290
166Axon guidance_Homo sapiens_hsa043600.44934739
167Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.44622403
168Chronic myeloid leukemia_Homo sapiens_hsa052200.43430897
169Amoebiasis_Homo sapiens_hsa051460.43229131
170Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.43163995
171Insulin signaling pathway_Homo sapiens_hsa049100.42810025
172Cysteine and methionine metabolism_Homo sapiens_hsa002700.42026679
173Gap junction_Homo sapiens_hsa045400.41703736
174Insulin secretion_Homo sapiens_hsa049110.41692684
175Viral carcinogenesis_Homo sapiens_hsa052030.41658721
176Notch signaling pathway_Homo sapiens_hsa043300.41529215
177Regulation of actin cytoskeleton_Homo sapiens_hsa048100.41438696
178SNARE interactions in vesicular transport_Homo sapiens_hsa041300.41262533
179Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.39121357
180Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.38319669
181Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.38268310
182Linoleic acid metabolism_Homo sapiens_hsa005910.37573584
183HIF-1 signaling pathway_Homo sapiens_hsa040660.32219353
184Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.30366845
185Long-term depression_Homo sapiens_hsa047300.30361360

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