EDAR

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





Description: This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1diterpenoid biosynthetic process (GO:0016102)5.83452951
2hemidesmosome assembly (GO:0031581)5.22148436
3limb bud formation (GO:0060174)5.18549042
4negative T cell selection (GO:0043383)5.15289738
5retinal metabolic process (GO:0042574)5.11134833
6negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.07996301
7negative regulation of cell killing (GO:0031342)5.07996301
8negative thymic T cell selection (GO:0045060)5.03711132
9DNA unwinding involved in DNA replication (GO:0006268)4.84361847
10positive regulation of gamma-delta T cell activation (GO:0046645)4.75577197
11daunorubicin metabolic process (GO:0044597)4.72970848
12polyketide metabolic process (GO:0030638)4.72970848
13doxorubicin metabolic process (GO:0044598)4.72970848
14nodal signaling pathway (GO:0038092)4.71803343
15thymic T cell selection (GO:0045061)4.70617980
16notochord development (GO:0030903)4.65302598
17T cell selection (GO:0045058)4.64838858
18histone H3-K36 demethylation (GO:0070544)4.62574323
19antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.62390331
20cartilage development involved in endochondral bone morphogenesis (GO:0060351)4.48972108
21neural crest cell development (GO:0014032)4.38499606
22regulation of gamma-delta T cell differentiation (GO:0045586)4.38058945
23positive T cell selection (GO:0043368)4.36665184
24positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.33433500
25G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071994.29908317
26DNA replication initiation (GO:0006270)4.25482082
27oocyte development (GO:0048599)4.24298960
28atrioventricular valve morphogenesis (GO:0003181)4.23764642
29cartilage condensation (GO:0001502)4.20974987
30cell aggregation (GO:0098743)4.20974987
31leukocyte aggregation (GO:0070486)4.15119552
32desmosome organization (GO:0002934)4.05766099
33positive regulation of humoral immune response (GO:0002922)4.01455875
34protein kinase C signaling (GO:0070528)4.01122568
35regulation of gamma-delta T cell activation (GO:0046643)3.96885091
36antigen processing and presentation of endogenous antigen (GO:0019883)3.93797265
37regulation of somitogenesis (GO:0014807)3.87496666
38regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)3.86658326
39negative regulation of mesenchymal cell apoptotic process (GO:2001054)3.86644823
40terpenoid biosynthetic process (GO:0016114)3.84953026
41mesenchymal cell development (GO:0014031)3.83372718
42photoreceptor cell differentiation (GO:0046530)3.82631808
43eye photoreceptor cell differentiation (GO:0001754)3.82631808
44positive thymic T cell selection (GO:0045059)3.79361018
45axonemal dynein complex assembly (GO:0070286)3.76927820
46tolerance induction (GO:0002507)3.75688652
47positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.74026806
48endocardial cushion morphogenesis (GO:0003203)3.73264801
49glucocorticoid receptor signaling pathway (GO:0042921)3.70822154
50mesenchyme morphogenesis (GO:0072132)3.69975417
51regulation of transforming growth factor beta2 production (GO:0032909)3.63003601
52mesodermal cell differentiation (GO:0048333)3.61854211
53positive regulation of granulocyte differentiation (GO:0030854)3.61569549
54T cell migration (GO:0072678)3.57591732
55regulation of DNA methylation (GO:0044030)3.54572136
56cochlea morphogenesis (GO:0090103)3.54430498
57negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)3.53824048
58negative regulation of cAMP-mediated signaling (GO:0043951)3.47503266
59phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)3.47125726
60response to interleukin-15 (GO:0070672)3.46999645
61motile cilium assembly (GO:0044458)3.46461737
62regulation of branching involved in prostate gland morphogenesis (GO:0060687)3.46152519
63embryonic viscerocranium morphogenesis (GO:0048703)3.43528681
64DNA strand elongation (GO:0022616)3.42210626
65histone H3-K9 demethylation (GO:0033169)3.41659184
66chondrocyte development (GO:0002063)3.38543117
67citrulline biosynthetic process (GO:0019240)3.36848726
68heart field specification (GO:0003128)3.33324076
69secondary heart field specification (GO:0003139)3.33324076
70regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.32958742
71heart valve morphogenesis (GO:0003179)3.31690413
72positive regulation of cell cycle G2/M phase transition (GO:1902751)3.26511847
73positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)3.26511847
74DNA strand elongation involved in DNA replication (GO:0006271)3.23172269
75response to laminar fluid shear stress (GO:0034616)3.21275042
76regulation of hippo signaling (GO:0035330)3.20964747
77collagen fibril organization (GO:0030199)3.20586537
78positive regulation of isotype switching (GO:0045830)3.18480457
79histone lysine demethylation (GO:0070076)3.18233240
80filopodium assembly (GO:0046847)3.17847442
81activation of Rac GTPase activity (GO:0032863)3.17784763
82regulation of female gonad development (GO:2000194)3.16545286
83regulation of non-canonical Wnt signaling pathway (GO:2000050)3.15792029
84receptor catabolic process (GO:0032801)3.15371855
85cartilage development (GO:0051216)3.15040304
86outer ear morphogenesis (GO:0042473)3.13906102
87renal system development (GO:0072001)3.13389829
88regulation of T cell tolerance induction (GO:0002664)3.13286524
89negative regulation of T cell mediated immunity (GO:0002710)3.12985861
90stem cell development (GO:0048864)3.11962960
91histone demethylation (GO:0016577)3.11245417
92cerebral cortex radially oriented cell migration (GO:0021799)3.10241344
93regulation of glucocorticoid metabolic process (GO:0031943)3.09021189
94embryonic cranial skeleton morphogenesis (GO:0048701)3.06842397
95telomere maintenance via recombination (GO:0000722)3.06375878
96histone H3-K4 methylation (GO:0051568)3.06117929
97lung-associated mesenchyme development (GO:0060484)3.06054559
98activated T cell proliferation (GO:0050798)3.04852918
99keratan sulfate catabolic process (GO:0042340)3.02658075
100uterus development (GO:0060065)3.02405101
101regulation of B cell receptor signaling pathway (GO:0050855)3.00058868
102phospholipid scrambling (GO:0017121)2.99232793
103alpha-beta T cell differentiation (GO:0046632)2.99152661
104mitotic recombination (GO:0006312)2.98725900
105positive regulation of extracellular matrix organization (GO:1903055)2.98691539
106positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.96375265
107regulation of mesenchymal cell apoptotic process (GO:2001053)2.95142618
108aminoglycoside antibiotic metabolic process (GO:0030647)2.94717220
109lateral sprouting from an epithelium (GO:0060601)2.94370643
110positive regulation of epithelial to mesenchymal transition (GO:0010718)2.94290686
111histone H3-K4 trimethylation (GO:0080182)2.94099814
112negative regulation of oligodendrocyte differentiation (GO:0048715)2.93093691
113nephron tubule formation (GO:0072079)2.91743739
114telomere maintenance via semi-conservative replication (GO:0032201)2.91468947
115regulation of alpha-beta T cell proliferation (GO:0046640)2.90780814
116T cell receptor signaling pathway (GO:0050852)2.90652080
117gland morphogenesis (GO:0022612)2.90467120
118positive regulation of chromosome segregation (GO:0051984)2.88745234
119negative regulation of gluconeogenesis (GO:0045721)2.88496351
120detection of bacterium (GO:0016045)2.88382956
121negative regulation of lymphocyte mediated immunity (GO:0002707)2.87889540
122T cell homeostasis (GO:0043029)2.87515444
123positive regulation of Cdc42 GTPase activity (GO:0043089)2.87006474
124multicellular organism reproduction (GO:0032504)2.86980894
125cellular response to interleukin-15 (GO:0071350)2.85149758
126regulation of sister chromatid cohesion (GO:0007063)2.83335935
127embryonic camera-type eye development (GO:0031076)2.81770622
128corticosteroid receptor signaling pathway (GO:0031958)2.80959444
129protein demethylation (GO:0006482)2.80769631
130protein dealkylation (GO:0008214)2.80769631
131epithelial cell differentiation involved in prostate gland development (GO:0060742)2.80179016
132IMP biosynthetic process (GO:0006188)2.80176348
133collagen catabolic process (GO:0030574)2.80143592
134detection of other organism (GO:0098543)2.80099485
135germ cell migration (GO:0008354)2.79806976
136regulation of steroid hormone biosynthetic process (GO:0090030)2.79491712
137galactose catabolic process (GO:0019388)2.78050666
138axis elongation (GO:0003401)2.77951021
139branch elongation of an epithelium (GO:0060602)2.77905740
140neuron fate commitment (GO:0048663)2.77108662
141regulation of isotype switching to IgG isotypes (GO:0048302)2.76404807
142proximal/distal pattern formation (GO:0009954)2.75520980
143planar cell polarity pathway involved in neural tube closure (GO:0090179)2.75365751
144interferon-gamma production (GO:0032609)2.74890204
145collagen metabolic process (GO:0032963)2.74573718
146natural killer cell differentiation (GO:0001779)2.74258774
147deoxyribonucleoside diphosphate metabolic process (GO:0009186)2.73751380
148genitalia morphogenesis (GO:0035112)2.73446245
149positive regulation of CREB transcription factor activity (GO:0032793)2.72766754
150epithelial tube branching involved in lung morphogenesis (GO:0060441)2.72410191
151non-canonical Wnt signaling pathway (GO:0035567)2.72113329
152positive regulation by symbiont of host defense response (GO:0052509)2.71832895
153modulation by symbiont of host defense response (GO:0052031)2.71832895
154modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.71832895
155modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.71832895
156positive regulation by organism of defense response of other organism involved in symbiotic interact2.71832895
157modulation by symbiont of host immune response (GO:0052553)2.71832895
158alpha-beta T cell activation (GO:0046631)2.71432255
159regulation of heart morphogenesis (GO:2000826)2.71084045
160regulation of isotype switching (GO:0045191)2.69973058
161apoptotic process involved in morphogenesis (GO:0060561)2.68680471
162negative regulation of chondrocyte differentiation (GO:0032331)2.67317764
163bone remodeling (GO:0046849)2.66796149
164intraciliary transport (GO:0042073)2.66645079
165regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.66595702
166regulation of acrosome reaction (GO:0060046)2.66011248
167ear development (GO:0043583)2.65377198
168somite development (GO:0061053)2.64654173
169protein heterotetramerization (GO:0051290)2.64447923
170positive regulation of DNA recombination (GO:0045911)2.64393485
171regulation of secondary heart field cardioblast proliferation (GO:0003266)2.64289232
172regulation of cardioblast proliferation (GO:0003264)2.64289232
173embryonic skeletal joint morphogenesis (GO:0060272)2.63432866
174retinoic acid metabolic process (GO:0042573)2.63205449
175positive regulation of alpha-beta T cell proliferation (GO:0046641)2.62473957
176cyclooxygenase pathway (GO:0019371)2.61970218
177positive regulation of cartilage development (GO:0061036)2.61643223
178V(D)J recombination (GO:0033151)2.61204301
179antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.60417191
180antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.60417191
181positive regulation of T cell differentiation in thymus (GO:0033089)2.60038826
182atrial cardiac muscle cell action potential (GO:0086014)2.60020570
183negative regulation of histone methylation (GO:0031061)2.59886813
184negative regulation of erythrocyte differentiation (GO:0045647)2.59670950
185negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)2.58700375
186antigen receptor-mediated signaling pathway (GO:0050851)2.58098068
187positive regulation of interleukin-2 production (GO:0032743)2.57655849
188regulation of interleukin-2 biosynthetic process (GO:0045076)2.56943970
189T cell differentiation (GO:0030217)2.56072568
190nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)2.54277109
191regulation of tolerance induction (GO:0002643)2.54162913
192regulation of granulocyte differentiation (GO:0030852)2.53917369
193negative regulation of leukocyte mediated immunity (GO:0002704)2.52546039
194positive regulation of tolerance induction (GO:0002645)2.52077459
195glycine transport (GO:0015816)2.52049521
196positive regulation of stem cell differentiation (GO:2000738)2.51950578
197positive regulation of interleukin-4 production (GO:0032753)2.51644573

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* TP63_17297297_ChIP-ChIP_HaCaT_Human5.53418980
2* STAT6_20620947_ChIP-Seq_CD4_POS_T_Human5.14464345
3FOXP3_17237761_ChIP-ChIP_TREG_Mouse5.14087787
4SALL1_21062744_ChIP-ChIP_HESCs_Human4.83341019
5BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse4.09341627
6TRIM28_21343339_ChIP-Seq_HEK293_Human4.08363581
7TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.70304127
8RUNX_20019798_ChIP-Seq_JUKART_Human3.33482291
9MYC_22102868_ChIP-Seq_BL_Human2.97398562
10ESR1_21235772_ChIP-Seq_MCF-7_Human2.74787420
11AR_21909140_ChIP-Seq_LNCAP_Human2.73588931
12TCF7_22412390_ChIP-Seq_EML_Mouse2.72209971
13FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.71965526
14TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.66510909
15CLOCK_20551151_ChIP-Seq_293T_Human2.65631559
16HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse2.54277531
17KDM2B_26808549_Chip-Seq_SUP-B15_Human2.52394592
18VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.47179242
19VDR_21846776_ChIP-Seq_THP-1_Human2.44277227
20NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.40380663
21UTX_26944678_Chip-Seq_JUKART_Human2.39390783
22MAF_26560356_Chip-Seq_TH1_Human2.36420055
23KDM2B_26808549_Chip-Seq_SIL-ALL_Human2.35889363
24MYB_26560356_Chip-Seq_TH1_Human2.32501802
25PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.31275623
26ZNF263_19887448_ChIP-Seq_K562_Human2.30873250
27IRF8_22096565_ChIP-ChIP_GC-B_Human2.29947902
28MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.28766328
29MYB_26560356_Chip-Seq_TH2_Human2.27536445
30KDM2B_26808549_Chip-Seq_HPB-ALL_Human2.23251050
31STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.22066785
32E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.16761740
33STAT6_21828071_ChIP-Seq_BEAS2B_Human2.13977830
34FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.07177350
35NOTCH1_21737748_ChIP-Seq_TLL_Human2.06816959
36WT1_19549856_ChIP-ChIP_CCG9911_Human2.01676789
37E2F7_22180533_ChIP-Seq_HELA_Human12.2904882
38KDM2B_26808549_Chip-Seq_JURKAT_Human1.98914529
39POU5F1_16153702_ChIP-ChIP_HESCs_Human1.94915026
40MAF_26560356_Chip-Seq_TH2_Human1.94295878
41PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.93319689
42KDM2B_26808549_Chip-Seq_DND41_Human1.89207917
43RUNX1_22412390_ChIP-Seq_EML_Mouse1.86523387
44SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.84579393
45GATA3_27048872_Chip-Seq_THYMUS_Human1.82946605
46VDR_24763502_ChIP-Seq_THP-1_Human1.78040299
47RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.71839778
48IRF8_21731497_ChIP-ChIP_J774_Mouse1.71393164
49EZH2_27304074_Chip-Seq_ESCs_Mouse1.70629241
50AR_21572438_ChIP-Seq_LNCaP_Human1.67466616
51BRD4_27068464_Chip-Seq_AML-cells_Mouse1.67032835
52CBX2_27304074_Chip-Seq_ESCs_Mouse1.66698504
53STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.65870486
54KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.65399589
55KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.65399589
56KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.65399589
57EED_16625203_ChIP-ChIP_MESCs_Mouse1.64617720
58TP53_20018659_ChIP-ChIP_R1E_Mouse1.56130269
59KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.54927754
60ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.54285631
61STAT4_19710469_ChIP-ChIP_TH1__Mouse1.52281340
62IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.51392062
63MYB_21317192_ChIP-Seq_ERMYB_Mouse1.50106968
64IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.49909145
65EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.49617134
66* FOXO3_23340844_ChIP-Seq_DLD1_Human1.48650991
67SCL_19346495_ChIP-Seq_HPC-7_Human1.48165465
68IRF8_27001747_Chip-Seq_BMDM_Mouse1.47235241
69ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.46377925
70RXR_22108803_ChIP-Seq_LS180_Human1.46154326
71SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.45053072
72GATA1_22025678_ChIP-Seq_K562_Human1.44472371
73ESR1_20079471_ChIP-ChIP_T-47D_Human1.40673583
74SPI1_23127762_ChIP-Seq_K562_Human1.40429030
75SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.39730271
76RUNX1_27514584_Chip-Seq_MCF-7_Human1.38918957
77EZH2_18974828_ChIP-Seq_MESCs_Mouse1.37475229
78RNF2_18974828_ChIP-Seq_MESCs_Mouse1.37475229
79ELK3_25401928_ChIP-Seq_HUVEC_Human1.37250256
80ISL1_27105846_Chip-Seq_CPCs_Mouse1.37053810
81CJUN_26792858_Chip-Seq_BT549_Human1.33186095
82RNF2_27304074_Chip-Seq_ESCs_Mouse1.33118689
83EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.32337710
84SPI1_23547873_ChIP-Seq_NB4_Human1.30839052
85JARID2_20075857_ChIP-Seq_MESCs_Mouse1.29661972
86NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.29396107
87SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.28637723
88* CTNNB1_20460455_ChIP-Seq_HCT116_Human1.28357108
89SMAD_19615063_ChIP-ChIP_OVARY_Human1.27171474
90* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.25419760
91SOX2_20726797_ChIP-Seq_SW620_Human1.23551499
92* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.23418562
93* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.23418562
94TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.21499645
95PKCTHETA_26484144_Chip-Seq_BREAST_Human1.19991602
96CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.19833456
97TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.19818875
98FOXM1_23109430_ChIP-Seq_U2OS_Human1.18739916
99SUZ12_27294783_Chip-Seq_ESCs_Mouse1.17810688
100SOX2_18555785_ChIP-Seq_MESCs_Mouse1.17810291
101SALL4_18804426_ChIP-ChIP_XEN_Mouse1.17486701
102SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.16494042
103ZNF217_24962896_ChIP-Seq_MCF-7_Human1.15059071
104EZH2_22144423_ChIP-Seq_EOC_Human1.14889226
105GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.13537567
106KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.12708000
107BMI1_23680149_ChIP-Seq_NPCS_Mouse1.12011381
108TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.11430660
109RBPJ_22232070_ChIP-Seq_NCS_Mouse1.11046396
110SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.10063236
111WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.08890342
112CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.08060466
113PPAR_26484153_Chip-Seq_NCI-H1993_Human1.07404842
114KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.06996909
115PIAS1_25552417_ChIP-Seq_VCAP_Human1.04760273
116ESR2_21235772_ChIP-Seq_MCF-7_Human1.04500081
117RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.02812706
118SOX2_27498859_Chip-Seq_STOMACH_Mouse1.02364542
119ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.02252708
120EZH2_27294783_Chip-Seq_ESCs_Mouse1.01350699
121RNF2_27304074_Chip-Seq_NSC_Mouse1.00939759
122GATA3_26560356_Chip-Seq_TH2_Human1.00840170
123CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.99826455
124TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.98079914
125GATA1_19941827_ChIP-Seq_MEL_Mouse0.97821083
126ZFP281_18757296_ChIP-ChIP_E14_Mouse0.96914298
127BCOR_27268052_Chip-Seq_Bcells_Human0.96742901
128E2F4_17652178_ChIP-ChIP_JURKAT_Human0.96615189
129ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.96437714
130GATA1_19941827_ChIP-Seq_MEL86_Mouse0.95658621
131ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.95178975
132P68_20966046_ChIP-Seq_HELA_Human0.94247618
133KDM2B_26808549_Chip-Seq_K562_Human0.94122142
134ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.93670423
135GATA6_25053715_ChIP-Seq_YYC3_Human0.93441052
136SOX9_24532713_ChIP-Seq_HFSC_Mouse0.93136652
137NANOG_16153702_ChIP-ChIP_HESCs_Human0.92862082
138ETS1_21867929_ChIP-Seq_TH2_Mouse0.92685292
139EWS_26573619_Chip-Seq_HEK293_Human0.92385345
140CDX2_20551321_ChIP-Seq_CACO-2_Human0.92347483
141* CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.92149556
142PU.1_20513432_ChIP-Seq_Bcells_Mouse0.91118263
143NCOR1_26117541_ChIP-Seq_K562_Human0.89796850
144POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.89718017
145TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89718017
146CTCF_27219007_Chip-Seq_ERYTHROID_Human0.89484069
147SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.89329250
148SOX2_16153702_ChIP-ChIP_HESCs_Human0.89243713
149RING1B_27294783_Chip-Seq_NPCs_Mouse0.88911766
150RACK7_27058665_Chip-Seq_MCF-7_Human0.88067942
151GATA1_22383799_ChIP-Seq_G1ME_Mouse0.87111827
152MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.86314170
153EGR1_19374776_ChIP-ChIP_THP-1_Human0.86156521
154MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.85890467
155BRD4_25478319_ChIP-Seq_HGPS_Human0.85821625
156SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.85708270
157ATF3_27146783_Chip-Seq_COLON_Human0.85201695
158ELK4_26923725_Chip-Seq_MESODERM_Mouse0.84910264
159Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.84107998
160CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.83946458
161FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.83890112
162LXR_22292898_ChIP-Seq_THP-1_Human0.83759474
163RING1B_27294783_Chip-Seq_ESCs_Mouse0.83495309
164CTBP1_25329375_ChIP-Seq_LNCAP_Human0.83304486
165SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.83232610
166SMC4_20622854_ChIP-Seq_HELA_Human0.82397183
167EP300_21415370_ChIP-Seq_HL-1_Mouse0.81895721
168DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.81738904
169PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.80612624
170CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.80579205
171PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.80567263
172FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.80487555
173* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.78796958
174JARID2_20064375_ChIP-Seq_MESCs_Mouse0.78679757
175TCF3_18692474_ChIP-Seq_MEFs_Mouse0.78313279
176MTF2_20144788_ChIP-Seq_MESCs_Mouse0.76549123
177FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.75252770
178TAL1_26923725_Chip-Seq_HPCs_Mouse0.75137487
179FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.74836214
180TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.74721458
181DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.74660938
182NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.74382891
183LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.70403043
184TP63_19390658_ChIP-ChIP_HaCaT_Human0.69533932
185* SA1_22415368_ChIP-Seq_MEFs_Mouse0.69476570
186SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.69014911
187* FOXM1_26456572_ChIP-Seq_MCF-7_Human0.68841239
188CTBP2_25329375_ChIP-Seq_LNCAP_Human0.67479642
189* SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.65848916
190BCAT_22108803_ChIP-Seq_LS180_Human0.64154480
191NANOG_18555785_ChIP-Seq_MESCs_Mouse0.63205173

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001986_abnormal_taste_sensitivity5.06584580
2MP0003763_abnormal_thymus_physiology4.26334357
3MP0000383_abnormal_hair_follicle3.80301014
4MP0002282_abnormal_trachea_morphology3.54513626
5MP0010030_abnormal_orbit_morphology3.35197073
6MP0002249_abnormal_larynx_morphology3.28510338
7MP0010678_abnormal_skin_adnexa3.11865158
8MP0005499_abnormal_olfactory_system3.00780200
9MP0005394_taste/olfaction_phenotype3.00780200
10MP0002254_reproductive_system_inflammat2.80264776
11MP0004381_abnormal_hair_follicle2.66291567
12MP0001270_distended_abdomen2.58403530
13MP0001346_abnormal_lacrimal_gland2.58184946
14MP0008057_abnormal_DNA_replication2.52539773
15MP0010234_abnormal_vibrissa_follicle2.48180626
16MP0000049_abnormal_middle_ear2.47685684
17MP0002234_abnormal_pharynx_morphology2.46975485
18MP0009250_abnormal_appendicular_skeleto2.41498542
19MP0000579_abnormal_nail_morphology2.34259119
20* MP0002098_abnormal_vibrissa_morphology2.32361485
21MP0000762_abnormal_tongue_morphology2.26703940
22MP0005503_abnormal_tendon_morphology2.17311553
23MP0001348_abnormal_lacrimal_gland2.16168737
24MP0005076_abnormal_cell_differentiation2.09955165
25MP0003436_decreased_susceptibility_to2.08151807
26MP0002233_abnormal_nose_morphology2.04267197
27MP0009333_abnormal_splenocyte_physiolog2.00488729
28MP0009384_cardiac_valve_regurgitation2.00406035
29MP0004947_skin_inflammation1.98137155
30MP0009379_abnormal_foot_pigmentation1.95889421
31MP0000163_abnormal_cartilage_morphology1.93808466
32MP0000703_abnormal_thymus_morphology1.93420965
33MP0001800_abnormal_humoral_immune1.91489823
34MP0010155_abnormal_intestine_physiology1.81989607
35MP0002396_abnormal_hematopoietic_system1.72690113
36MP0001873_stomach_inflammation1.72618708
37MP0000467_abnormal_esophagus_morphology1.69686455
38MP0003942_abnormal_urinary_system1.69315640
39MP0002932_abnormal_joint_morphology1.69090882
40MP0005367_renal/urinary_system_phenotyp1.67529822
41MP0000516_abnormal_urinary_system1.67529822
42MP0002009_preneoplasia1.66678251
43MP0004134_abnormal_chest_morphology1.65860209
44MP0009278_abnormal_bone_marrow1.64434076
45MP0003755_abnormal_palate_morphology1.64051357
46MP0002115_abnormal_skeleton_extremities1.63977585
47MP0003705_abnormal_hypodermis_morpholog1.61624703
48MP0005248_abnormal_Harderian_gland1.60035913
49MP0001851_eye_inflammation1.59518161
50MP0002420_abnormal_adaptive_immunity1.58698490
51MP0001819_abnormal_immune_cell1.56185610
52MP0002398_abnormal_bone_marrow1.53916526
53MP0000566_synostosis1.52056628
54MP0002933_joint_inflammation1.51020975
55MP0002938_white_spotting1.50379637
56MP0001188_hyperpigmentation1.49688908
57MP0005508_abnormal_skeleton_morphology1.48152258
58MP0004808_abnormal_hematopoietic_stem1.47800428
59MP0002138_abnormal_hepatobiliary_system1.47777229
60MP0002116_abnormal_craniofacial_bone1.47094490
61MP0000678_abnormal_parathyroid_gland1.46848813
62MP0003718_maternal_effect1.46553329
63MP0005671_abnormal_response_to1.45709823
64MP0001545_abnormal_hematopoietic_system1.44381437
65MP0005397_hematopoietic_system_phenotyp1.44381437
66MP0010094_abnormal_chromosome_stability1.43739940
67MP0002452_abnormal_antigen_presenting1.43374996
68MP0002723_abnormal_immune_serum1.42571542
69MP0008260_abnormal_autophagy1.41294415
70MP0003300_gastrointestinal_ulcer1.41156001
71MP0001849_ear_inflammation1.40664947
72MP0001177_atelectasis1.40209227
73MP0002109_abnormal_limb_morphology1.40056493
74MP0003935_abnormal_craniofacial_develop1.40009231
75MP0003941_abnormal_skin_development1.39471790
76MP0005451_abnormal_body_composition1.39055323
77MP0008007_abnormal_cellular_replicative1.37338361
78MP0000647_abnormal_sebaceous_gland1.37280324
79MP0002111_abnormal_tail_morphology1.37262973
80MP0003385_abnormal_body_wall1.36774746
81MP0000716_abnormal_immune_system1.36388094
82MP0003646_muscle_fatigue1.36070209
83MP0003937_abnormal_limbs/digits/tail_de1.35426079
84MP0005275_abnormal_skin_tensile1.35362323
85MP0005310_abnormal_salivary_gland1.35135847
86MP0000685_abnormal_immune_system1.32046426
87MP0005000_abnormal_immune_tolerance1.31631416
88MP0000432_abnormal_head_morphology1.31153940
89MP0005387_immune_system_phenotype1.29172770
90MP0001790_abnormal_immune_system1.29172770
91MP0000751_myopathy1.25983675
92MP0003866_abnormal_defecation1.25977350
93MP0004264_abnormal_extraembryonic_tissu1.25593477
94MP0002909_abnormal_adrenal_gland1.24358542
95MP0002405_respiratory_system_inflammati1.24246779
96MP0003724_increased_susceptibility_to1.22587643
97MP0001835_abnormal_antigen_presentation1.21813876
98MP0003453_abnormal_keratinocyte_physiol1.21536136
99MP0000490_abnormal_crypts_of1.21421428
100MP0002722_abnormal_immune_system1.21241080
101MP0002060_abnormal_skin_morphology1.21208823
102MP0008789_abnormal_olfactory_epithelium1.20339702
103MP0002419_abnormal_innate_immunity1.20255662
104MP0003938_abnormal_ear_development1.20039953
105MP0002796_impaired_skin_barrier1.19521453
106MP0005025_abnormal_response_to1.19173890
107MP0003279_aneurysm1.18318014
108MP0001340_abnormal_eyelid_morphology1.18259058
109MP0003315_abnormal_perineum_morphology1.17657499
110* MP0000377_abnormal_hair_follicle1.17511924
111MP0003123_paternal_imprinting1.17403114
112MP0002113_abnormal_skeleton_development1.16049433
113MP0003115_abnormal_respiratory_system1.15394081
114MP0000462_abnormal_digestive_system1.15247431
115MP0002998_abnormal_bone_remodeling1.14152392
116MP0002095_abnormal_skin_pigmentation1.13498711
117MP0003183_abnormal_peptide_metabolism1.12018698
118MP0004272_abnormal_basement_membrane1.11674243
119MP0000470_abnormal_stomach_morphology1.10734059
120MP0000689_abnormal_spleen_morphology1.10544394
121MP0004133_heterotaxia1.10398498
122MP0001216_abnormal_epidermal_layer1.07934738
123MP0005075_abnormal_melanosome_morpholog1.07645799
124* MP0000427_abnormal_hair_cycle1.07506597
125MP0002429_abnormal_blood_cell1.02127540
126MP0000026_abnormal_inner_ear1.00850465
127MP0002132_abnormal_respiratory_system0.99931135
128MP0005409_darkened_coat_color0.99195051
129MP0002177_abnormal_outer_ear0.98729475
130MP0006138_congestive_heart_failure0.93362673
131MP0002166_altered_tumor_susceptibility0.91759365
132MP0000428_abnormal_craniofacial_morphol0.89641047
133MP0000858_altered_metastatic_potential0.89442295
134MP0002114_abnormal_axial_skeleton0.89278094
135MP0003693_abnormal_embryo_hatching0.88958022
136MP0003191_abnormal_cellular_cholesterol0.88015486
137MP0005187_abnormal_penis_morphology0.87819163
138MP0004185_abnormal_adipocyte_glucose0.86030283
139MP0003699_abnormal_female_reproductive0.85676231
140MP0005023_abnormal_wound_healing0.85638781
141MP0002210_abnormal_sex_determination0.84712371
142MP0003303_peritoneal_inflammation0.83340562
143MP0005501_abnormal_skin_physiology0.83027609
144MP0000537_abnormal_urethra_morphology0.82935760
145MP0005623_abnormal_meninges_morphology0.82366325
146MP0005621_abnormal_cell_physiology0.80841657
147MP0010771_integument_phenotype0.80582752
148MP0004883_abnormal_blood_vessel0.79889488
149MP0003077_abnormal_cell_cycle0.79207648
150MP0000534_abnormal_ureter_morphology0.77673099
151MP0003828_pulmonary_edema0.77425916
152MP0001958_emphysema0.77238285
153MP0009931_abnormal_skin_appearance0.76118672
154MP0001119_abnormal_female_reproductive0.75895541
155MP0000733_abnormal_muscle_development0.75454530
156MP0002133_abnormal_respiratory_system0.74978952
157MP0005388_respiratory_system_phenotype0.74978952
158MP0000465_gastrointestinal_hemorrhage0.74733297
159MP0001286_abnormal_eye_development0.74458787
160MP0004130_abnormal_muscle_cell0.74357408
161MP0003936_abnormal_reproductive_system0.73150729
162MP0005390_skeleton_phenotype0.73006236
163MP0003943_abnormal_hepatobiliary_system0.72359469
164MP0008961_abnormal_basal_metabolism0.70083301
165MP0002019_abnormal_tumor_incidence0.68334179
166MP0001672_abnormal_embryogenesis/_devel0.67567022
167MP0005380_embryogenesis_phenotype0.67567022
168MP0005174_abnormal_tail_pigmentation0.67526802
169MP0002006_tumorigenesis0.66990372
170MP0003091_abnormal_cell_migration0.65655356
171MP0006082_CNS_inflammation0.65108821
172MP0001730_embryonic_growth_arrest0.63405252
173MP0003890_abnormal_embryonic-extraembry0.62756660
174MP0001191_abnormal_skin_condition0.61755468
175MP0001845_abnormal_inflammatory_respons0.60620341

Predicted human phenotypes

RankGene SetZ-score
1Epiphyseal dysplasia (HP:0002656)7.21541905
2Irregular epiphyses (HP:0010582)7.02680975
3Aplasia cutis congenita (HP:0001057)6.13105465
4Vitreoretinal degeneration (HP:0000655)5.66617205
5Neonatal short-limb short stature (HP:0008921)4.99283197
6Eczematoid dermatitis (HP:0000976)4.94334718
7Pustule (HP:0200039)4.79382610
8Birth length less than 3rd percentile (HP:0003561)4.27866019
9Oligodontia (HP:0000677)4.12278915
10Hypoplastic ischia (HP:0003175)3.99085790
11Fragile skin (HP:0001030)3.85667866
12Ureteral stenosis (HP:0000071)3.84156368
13Congenital malformation of the right heart (HP:0011723)3.81884867
14Double outlet right ventricle (HP:0001719)3.81884867
15Esophageal atresia (HP:0002032)3.76966072
16Genu varum (HP:0002970)3.67232711
17Subacute progressive viral hepatitis (HP:0006572)3.66196977
18Ureteral obstruction (HP:0006000)3.60921059
19Aplasia/Hypoplasia of the pubic bone (HP:0009104)3.56575646
20Abnormality of the ischium (HP:0003174)3.52129726
21Milia (HP:0001056)3.50858047
22T lymphocytopenia (HP:0005403)3.44347518
23Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)3.42563200
24Absent epiphyses (HP:0010577)3.42563200
25Stomatitis (HP:0010280)3.30816417
26Small epiphyses (HP:0010585)3.20556783
27Cupped ribs (HP:0000887)3.20422220
28Severe Myopia (HP:0011003)3.16436660
29Pterygium (HP:0001059)3.09308267
30Ectropion (HP:0000656)3.04815753
31Glossoptosis (HP:0000162)3.04755238
32Morphological abnormality of the middle ear (HP:0008609)3.01300419
33Abnormality of abdominal situs (HP:0011620)3.00286210
34Abdominal situs inversus (HP:0003363)3.00286210
35Down-sloping shoulders (HP:0200021)2.99796297
36Lip pit (HP:0100267)2.99217632
37Abnormality of T cell number (HP:0011839)2.97828292
38Abnormality of the 2nd finger (HP:0004100)2.96572077
39Megalencephaly (HP:0001355)2.93441861
40Fibular hypoplasia (HP:0003038)2.91861873
41Abnormality of the fingertips (HP:0001211)2.84657634
42Annular pancreas (HP:0001734)2.83463686
43Abnormality of the phalanges of the 2nd finger (HP:0009541)2.82891747
44Poikiloderma (HP:0001029)2.82259466
45Atrophic scars (HP:0001075)2.82016372
46Delayed epiphyseal ossification (HP:0002663)2.80301238
47Flattened epiphyses (HP:0003071)2.78897542
48Malnutrition (HP:0004395)2.78503961
49Mixed hearing impairment (HP:0000410)2.76971508
50Abnormal ciliary motility (HP:0012262)2.75812972
51Ridged nail (HP:0001807)2.74917224
52Recurrent bacterial skin infections (HP:0005406)2.74469307
53Abnormality of oral frenula (HP:0000190)2.69055067
54Facial hemangioma (HP:0000329)2.68318358
55Onycholysis (HP:0001806)2.64165998
56Hereditary nonpolyposis colorectal carcinoma (HP:0006716)2.63137372
57Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.62366074
58Mild short stature (HP:0003502)2.60926982
59Urethral obstruction (HP:0000796)2.59024126
60Gastrointestinal inflammation (HP:0004386)2.58627125
61Inflammation of the large intestine (HP:0002037)2.57338537
62Basal cell carcinoma (HP:0002671)2.57326188
63Sparse scalp hair (HP:0002209)2.56906511
64Menstrual irregularities (HP:0000858)2.55561083
65Abnormal respiratory motile cilium physiology (HP:0012261)2.51935915
66Leiomyosarcoma (HP:0100243)2.46831303
67Uterine leiomyosarcoma (HP:0002891)2.46831303
68Hemorrhage of the eye (HP:0011885)2.45995568
69Osteoarthritis (HP:0002758)2.45541203
70Pili torti (HP:0003777)2.43250881
71Elevated erythrocyte sedimentation rate (HP:0003565)2.42925217
72Abnormality involving the epiphyses of the lower limbs (HP:0006500)2.41823367
73Abnormality of femoral epiphyses (HP:0006499)2.41823367
74Atresia of the external auditory canal (HP:0000413)2.39010923
75Cheilitis (HP:0100825)2.37808720
76Recurrent abscess formation (HP:0002722)2.36694453
77IgM deficiency (HP:0002850)2.34299317
78Natal tooth (HP:0000695)2.34204025
79Cervical subluxation (HP:0003308)2.31951804
80Abnormality of the pubic bones (HP:0003172)2.27502099
81Abnormality of macrophages (HP:0004311)2.25739027
82Recurrent fungal infections (HP:0002841)2.24934172
83Protuberant abdomen (HP:0001538)2.23823237
84Thin bony cortex (HP:0002753)2.23422517
85Myositis (HP:0100614)2.23351024
86Pigmentary retinal degeneration (HP:0001146)2.21571087
87Aplasia/Hypoplasia of the sternum (HP:0006714)2.21101368
88Abnormal tarsal ossification (HP:0008369)2.21022564
89Micronodular cirrhosis (HP:0001413)2.20905407
90Truncus arteriosus (HP:0001660)2.20344847
91Transitional cell carcinoma of the bladder (HP:0006740)2.19342429
92Increased IgE level (HP:0003212)2.18402364
93Palmoplantar hyperkeratosis (HP:0000972)2.17871689
94Gingivitis (HP:0000230)2.17760579
95Malignant gastrointestinal tract tumors (HP:0006749)2.17713717
96Gastrointestinal carcinoma (HP:0002672)2.17713717
97Prolonged bleeding time (HP:0003010)2.17659690
98Small intestinal stenosis (HP:0012848)2.17576883
99Duodenal stenosis (HP:0100867)2.17576883
100Synostosis of carpal bones (HP:0005048)2.16624702
101Sprengel anomaly (HP:0000912)2.15201408
102Short ribs (HP:0000773)2.14303867
103Panhypogammaglobulinemia (HP:0003139)2.13396321
104Flat acetabular roof (HP:0003180)2.12910024
105Flat capital femoral epiphysis (HP:0003370)2.11198740
106Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.10955518
107Abnormality of the epiphysis of the femoral head (HP:0010574)2.10829107
108Selective tooth agenesis (HP:0001592)2.09948396
109Fragile nails (HP:0001808)2.09386553
110Palmar hyperkeratosis (HP:0010765)2.08493078
111Viral hepatitis (HP:0006562)2.08365643
112Premature ovarian failure (HP:0008209)2.08356732
113Broad face (HP:0000283)2.06584519
114Enlarged epiphyses (HP:0010580)2.04591074
115Severe combined immunodeficiency (HP:0004430)2.04369438
116Recurrent viral infections (HP:0004429)2.04359720
117Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)2.03800984
118Atrioventricular canal defect (HP:0006695)2.01424930
119Ankle contracture (HP:0006466)2.00492016
120Hypoplasia of dental enamel (HP:0006297)1.99863639
121Abnormal blistering of the skin (HP:0008066)1.99628454
122Abnormality of the femoral head (HP:0003368)1.99145205
123Renal cell carcinoma (HP:0005584)1.98686300
124Bladder carcinoma (HP:0002862)1.97690855
125Bladder neoplasm (HP:0009725)1.97690855
126Papilledema (HP:0001085)1.97605157
127Ankyloglossia (HP:0010296)1.97290807
128Abnormality of the parietal bone (HP:0002696)1.96526306
129Gastrointestinal infarctions (HP:0005244)1.96192834
130Abnormal sex determination (HP:0012244)1.94664941
131Sex reversal (HP:0012245)1.94664941
132Sepsis (HP:0100806)1.94586913
133Gastrointestinal atresia (HP:0002589)1.94361673
134Protrusio acetabuli (HP:0003179)1.93774062
135* Hypotrichosis (HP:0001006)1.93142866
136Thickened calvaria (HP:0002684)1.92117938
137Abnormality of T cells (HP:0002843)1.91134441
138Obstructive sleep apnea (HP:0002870)1.90934354
139Slow saccadic eye movements (HP:0000514)1.88715681
140Abnormality of the vertebral endplates (HP:0005106)1.86697816
141Abnormal delayed hypersensitivity skin test (HP:0002963)1.85107257
142Aplasia/Hypoplasia of the fibula (HP:0006492)1.84167864
143Advanced eruption of teeth (HP:0006288)1.83999465
144Abnormality of the phalanges of the hallux (HP:0010057)1.83736379
145Limited elbow extension (HP:0001377)1.82973109
146Alacrima (HP:0000522)1.82854601
147Woolly hair (HP:0002224)1.81450978
148Thin ribs (HP:0000883)1.80055411
149Renal dysplasia (HP:0000110)1.79427846
150Abnormality of the phalanges of the 5th finger (HP:0004213)1.78700407
151Colon cancer (HP:0003003)1.78666269
152Osteomyelitis (HP:0002754)1.78170611
153Thick nail (HP:0001805)1.78165381
154Abnormality of the vitreous humor (HP:0004327)1.76883512
155Short 4th metacarpal (HP:0010044)1.76614782
156Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.76614782
157Blepharitis (HP:0000498)1.76106023
158Growth hormone excess (HP:0000845)1.74991696
159Combined immunodeficiency (HP:0005387)1.74038819
160Absent/shortened dynein arms (HP:0200106)1.74029087
161Dynein arm defect of respiratory motile cilia (HP:0012255)1.74029087
162Abnormal pancreas size (HP:0012094)1.72687303
163Hyperacusis (HP:0010780)1.72355392
164Abnormal ventriculo-arterial connection (HP:0011563)1.72128118
165Transposition of the great arteries (HP:0001669)1.72128118
166Abnormal connection of the cardiac segments (HP:0011545)1.72128118
167* Periodontitis (HP:0000704)1.72019604
168Arterial tortuosity (HP:0005116)1.71962739
169Plantar hyperkeratosis (HP:0007556)1.71701943
170Cranial hyperostosis (HP:0004437)1.71479241
171Abnormality of the lacrimal duct (HP:0011481)1.71312494
172Abnormal vertebral ossification (HP:0100569)1.70985455
173Verrucae (HP:0200043)1.70910806
174Papilloma (HP:0012740)1.70910806
175Neonatal hypoglycemia (HP:0001998)1.70360254
176Orchitis (HP:0100796)1.70182706
177Carpal synostosis (HP:0009702)1.69158978
178Abnormality of the aortic arch (HP:0012303)1.69032421
179Abnormal respiratory epithelium morphology (HP:0012253)1.68906464
180Abnormal respiratory motile cilium morphology (HP:0005938)1.68906464
181Slender long bone (HP:0003100)1.68749515
182Follicular hyperkeratosis (HP:0007502)1.67341244
183Micromelia (HP:0002983)1.67199387
184Fair hair (HP:0002286)1.67099387
185Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)1.66642326
186Nail dystrophy (HP:0008404)1.66084513
187Genu valgum (HP:0002857)1.66018350
188Abnormality of the gastric mucosa (HP:0004295)1.65746359
189Seborrheic dermatitis (HP:0001051)1.65559468
190Short femoral neck (HP:0100864)1.65011695
191Mesomelia (HP:0003027)1.64756126
192Hypoplasia of the capital femoral epiphysis (HP:0003090)1.63752625
193Premature rupture of membranes (HP:0001788)1.62348414

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHB24.53512088
2MAP3K33.90933951
3MAP4K13.72488770
4DDR23.48700981
5CDK123.48622746
6EPHA23.41825672
7PRPF4B3.36701623
8CDC73.34222081
9MKNK13.27432916
10STK243.15086428
11TRIB33.10694993
12NME13.04573431
13MAP3K132.64508195
14LATS12.59225504
15MAP3K102.50756637
16YES12.49303959
17ERBB32.42203475
18MKNK22.19583847
19STK38L2.15013344
20DMPK2.07021172
21WEE12.01863548
22MET2.00886780
23PASK1.98758345
24BRD41.93170975
25TXK1.90558997
26SIK11.87167078
27TNK21.83151641
28SMG11.76683422
29NLK1.75622175
30ITK1.74868059
31PRKD31.70975069
32EPHA41.67458310
33FRK1.65107256
34BTK1.64338449
35MELK1.62538997
36BMPR21.61162877
37DYRK21.59665270
38EPHA31.56807034
39RIPK11.52685818
40FGFR21.52261516
41STK31.50989314
42IRAK41.48795282
43MAPK151.48729198
44TGFBR21.45866739
45ZAP701.44268148
46LMTK21.42923043
47CSK1.41036421
48PTK61.34140638
49GRK61.34130744
50PDK21.31853388
51TGFBR11.28090704
52TAOK31.27086204
53RPS6KB21.26264035
54VRK11.25828022
55FES1.24959458
56MYLK1.23698514
57SIK31.22538744
58RPS6KA41.21285324
59PAK21.19947863
60MUSK1.17469954
61CAMKK21.16403420
62TYK21.16291148
63LRRK21.15867748
64SIK21.11143696
65EEF2K1.08859656
66ROCK11.07502667
67HCK1.07337008
68PLK21.07185151
69MOS1.06714631
70IRAK21.03695103
71ARAF1.02564050
72MARK31.02528980
73MAP3K91.00217710
74TIE11.00088384
75JAK31.00004510
76SGK2230.99045605
77SGK4940.99045605
78MARK20.98494715
79PRKD20.97973288
80IKBKE0.96469964
81CDK70.95241228
82KSR20.95160250
83EPHB10.93160686
84MAP3K140.93024498
85MAP2K30.92751288
86TTN0.91202152
87CAMKK10.90868583
88FGFR40.90357753
89BRSK10.87534213
90SGK20.82750818
91LCK0.82325289
92PKN20.81098779
93ERN10.79846562
94KSR10.79688936
95PLK30.77281013
96MST1R0.75396504
97TYRO30.73813935
98JAK10.73426547
99TTK0.72289888
100RIPK40.72233541
101PIK3CA0.71003858
102FGFR30.68542850
103AURKB0.68503265
104BLK0.68087272
105IRAK30.65651597
106ERBB20.65368270
107TNIK0.65296941
108CDK90.64800763
109MAP3K70.60834738
110CDK80.60401241
111CSF1R0.57987717
112PRKG20.57874091
113MST40.56474678
114ICK0.55795578
115DYRK30.54397214
116MAPK40.53768093
117CDK60.53042939
118NEK90.52868273
119BCKDK0.52865246
120IRAK10.52725699
121CCNB10.52631343
122PLK40.52629884
123CHUK0.51992415
124MAPK110.51682497
125PIM10.51141976
126FER0.50470986
127HIPK20.49766016
128ILK0.49501365
129CAMK40.49370931
130PRKCQ0.48574113
131PDK10.48307322
132DYRK1B0.47595875
133DYRK1A0.47427521
134SYK0.47158939
135TEC0.46849261
136STK380.45208794
137ATR0.44286360
138EIF2AK20.44135755
139WNK10.43707690
140TRPM70.43495907
141LYN0.43000860
142ROCK20.42767352
143ADRBK10.42656615
144NEK60.42558149
145FGFR10.42252166
146IKBKB0.41849187
147RET0.40923920
148STK390.40471916
149CLK10.39478271
150KIT0.39422519
151NUAK10.39236981
152PRKCI0.36799441
153STK100.36737068
154MTOR0.36528558
155RPS6KA10.36236760
156PHKG10.36034357
157PHKG20.36034357
158AURKA0.34609608
159JAK20.32911812
160CDK40.30762707
161AKT30.30746918
162BMX0.30540202
163UHMK10.29820791
164MAPK120.27039059
165MAP3K10.26923322
166MAPK30.26741281
167NME20.26057153
168RAF10.26005802
169CHEK20.24821362
170SGK30.24099486
171MAPK130.23163955
172BRAF0.23077572
173MAPK10.22898997

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.55675188
2ECM-receptor interaction_Homo sapiens_hsa045123.10692160
3Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005333.02400445
4Cell cycle_Homo sapiens_hsa041102.96327020
5Basal cell carcinoma_Homo sapiens_hsa052172.90511022
6T cell receptor signaling pathway_Homo sapiens_hsa046602.56829957
7Mismatch repair_Homo sapiens_hsa034302.51611615
8Sulfur metabolism_Homo sapiens_hsa009202.51152737
9Protein digestion and absorption_Homo sapiens_hsa049742.47660985
10Hedgehog signaling pathway_Homo sapiens_hsa043402.30084199
11Primary immunodeficiency_Homo sapiens_hsa053402.24846376
12Hippo signaling pathway_Homo sapiens_hsa043902.18333807
13Phosphatidylinositol signaling system_Homo sapiens_hsa040702.00425397
14Inositol phosphate metabolism_Homo sapiens_hsa005621.92776764
15Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.86688601
16Osteoclast differentiation_Homo sapiens_hsa043801.85432644
17B cell receptor signaling pathway_Homo sapiens_hsa046621.82775159
18Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.81319760
19Small cell lung cancer_Homo sapiens_hsa052221.78395270
20Arachidonic acid metabolism_Homo sapiens_hsa005901.70112477
21Focal adhesion_Homo sapiens_hsa045101.66212300
22Notch signaling pathway_Homo sapiens_hsa043301.65565026
23NF-kappa B signaling pathway_Homo sapiens_hsa040641.64396862
24Wnt signaling pathway_Homo sapiens_hsa043101.61647238
25Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.60916988
26Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.57313627
27Non-homologous end-joining_Homo sapiens_hsa034501.56430190
28RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.53461919
29Base excision repair_Homo sapiens_hsa034101.52160846
30Prolactin signaling pathway_Homo sapiens_hsa049171.51470736
31p53 signaling pathway_Homo sapiens_hsa041151.47449755
32Bladder cancer_Homo sapiens_hsa052191.46899737
33TGF-beta signaling pathway_Homo sapiens_hsa043501.43535305
34Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.39827863
35Homologous recombination_Homo sapiens_hsa034401.39179536
36mTOR signaling pathway_Homo sapiens_hsa041501.38306204
37Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.36885475
38Transcriptional misregulation in cancer_Homo sapiens_hsa052021.36802885
39Cyanoamino acid metabolism_Homo sapiens_hsa004601.32397492
40Herpes simplex infection_Homo sapiens_hsa051681.31567033
41Selenocompound metabolism_Homo sapiens_hsa004501.27490735
42Pancreatic cancer_Homo sapiens_hsa052121.27427802
43PI3K-Akt signaling pathway_Homo sapiens_hsa041511.24657409
44Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.23162695
45MicroRNAs in cancer_Homo sapiens_hsa052061.22554344
46Hematopoietic cell lineage_Homo sapiens_hsa046401.17097016
47NOD-like receptor signaling pathway_Homo sapiens_hsa046211.15367204
48Toll-like receptor signaling pathway_Homo sapiens_hsa046201.13143755
49Tight junction_Homo sapiens_hsa045301.11648823
50Proteoglycans in cancer_Homo sapiens_hsa052051.10385682
51Chemokine signaling pathway_Homo sapiens_hsa040621.10297151
52HTLV-I infection_Homo sapiens_hsa051661.09428884
53Carbohydrate digestion and absorption_Homo sapiens_hsa049731.08224233
54Ovarian steroidogenesis_Homo sapiens_hsa049131.08194329
55AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.07305043
56Nucleotide excision repair_Homo sapiens_hsa034201.04178463
57TNF signaling pathway_Homo sapiens_hsa046681.01650468
58Ribosome_Homo sapiens_hsa030100.99543397
59Influenza A_Homo sapiens_hsa051640.99100060
60Spliceosome_Homo sapiens_hsa030400.98633823
61Choline metabolism in cancer_Homo sapiens_hsa052310.96202072
62Melanogenesis_Homo sapiens_hsa049160.93837649
63ErbB signaling pathway_Homo sapiens_hsa040120.93707751
64Basal transcription factors_Homo sapiens_hsa030220.92653738
65Pathways in cancer_Homo sapiens_hsa052000.91537302
66Colorectal cancer_Homo sapiens_hsa052100.88883912
67Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.87246075
68FoxO signaling pathway_Homo sapiens_hsa040680.87172322
69Apoptosis_Homo sapiens_hsa042100.86632840
70Thyroid cancer_Homo sapiens_hsa052160.83646610
71Viral carcinogenesis_Homo sapiens_hsa052030.80282584
72Autoimmune thyroid disease_Homo sapiens_hsa053200.79957558
73Endometrial cancer_Homo sapiens_hsa052130.79870249
74Chronic myeloid leukemia_Homo sapiens_hsa052200.77366175
75Propanoate metabolism_Homo sapiens_hsa006400.77252737
76Insulin resistance_Homo sapiens_hsa049310.76504956
77Phospholipase D signaling pathway_Homo sapiens_hsa040720.76427455
78Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.76066672
79Leukocyte transendothelial migration_Homo sapiens_hsa046700.76048227
80Sphingolipid signaling pathway_Homo sapiens_hsa040710.75428202
81Toxoplasmosis_Homo sapiens_hsa051450.75159914
82Glutathione metabolism_Homo sapiens_hsa004800.73250454
83Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.72929992
84Allograft rejection_Homo sapiens_hsa053300.72543761
85Hepatitis B_Homo sapiens_hsa051610.72343939
86Graft-versus-host disease_Homo sapiens_hsa053320.71764346
87Epstein-Barr virus infection_Homo sapiens_hsa051690.71658641
88Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.70885416
89Acute myeloid leukemia_Homo sapiens_hsa052210.70168230
90Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.69698217
91ABC transporters_Homo sapiens_hsa020100.69345068
92Lysine degradation_Homo sapiens_hsa003100.67813220
93Axon guidance_Homo sapiens_hsa043600.65619519
94Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.65569036
95Circadian rhythm_Homo sapiens_hsa047100.65536471
96Dorso-ventral axis formation_Homo sapiens_hsa043200.65393380
97Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.65350671
98Melanoma_Homo sapiens_hsa052180.64704139
99Longevity regulating pathway - mammal_Homo sapiens_hsa042110.63159537
100Amoebiasis_Homo sapiens_hsa051460.62628693
101Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.62243945
102Ras signaling pathway_Homo sapiens_hsa040140.61344528
103Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.61249923
104Endocytosis_Homo sapiens_hsa041440.60260515
105Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.60239829
106Long-term potentiation_Homo sapiens_hsa047200.59075131
107Insulin signaling pathway_Homo sapiens_hsa049100.58804102
108Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.58587621
109Jak-STAT signaling pathway_Homo sapiens_hsa046300.58304233
110Prostate cancer_Homo sapiens_hsa052150.57852186
111SNARE interactions in vesicular transport_Homo sapiens_hsa041300.56532596
112N-Glycan biosynthesis_Homo sapiens_hsa005100.55335786
113Tuberculosis_Homo sapiens_hsa051520.54765823
114Glycerophospholipid metabolism_Homo sapiens_hsa005640.53284144
115Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.51350855
116Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.50745818
117MAPK signaling pathway_Homo sapiens_hsa040100.49943965
118Platelet activation_Homo sapiens_hsa046110.49433572
119Thyroid hormone signaling pathway_Homo sapiens_hsa049190.49006687
120HIF-1 signaling pathway_Homo sapiens_hsa040660.48921576
121GnRH signaling pathway_Homo sapiens_hsa049120.48015835
122Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.47350749
123Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.47082913
124Adherens junction_Homo sapiens_hsa045200.46717792
125Dilated cardiomyopathy_Homo sapiens_hsa054140.46687270
126Pentose and glucuronate interconversions_Homo sapiens_hsa000400.45112225
127Viral myocarditis_Homo sapiens_hsa054160.43809347
128Glioma_Homo sapiens_hsa052140.42667050
129VEGF signaling pathway_Homo sapiens_hsa043700.42059506
130Measles_Homo sapiens_hsa051620.41686747
131Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.41069142
132Renal cell carcinoma_Homo sapiens_hsa052110.40446906
133Rap1 signaling pathway_Homo sapiens_hsa040150.38853249
134Non-small cell lung cancer_Homo sapiens_hsa052230.37960211
135Pyrimidine metabolism_Homo sapiens_hsa002400.36243494
136Shigellosis_Homo sapiens_hsa051310.35326213
137Neurotrophin signaling pathway_Homo sapiens_hsa047220.34806572
138Malaria_Homo sapiens_hsa051440.34352326
139AMPK signaling pathway_Homo sapiens_hsa041520.34277493
140Central carbon metabolism in cancer_Homo sapiens_hsa052300.33526651
141Leishmaniasis_Homo sapiens_hsa051400.32762872
142Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.32220166
143Fatty acid degradation_Homo sapiens_hsa000710.31734956
144Retinol metabolism_Homo sapiens_hsa008300.31598460
145Fatty acid metabolism_Homo sapiens_hsa012120.29823559
146alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.29297392
147Hepatitis C_Homo sapiens_hsa051600.26893456
148Regulation of actin cytoskeleton_Homo sapiens_hsa048100.25235318
149Legionellosis_Homo sapiens_hsa051340.25142580

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