EDARADD

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 was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1desmosome organization (GO:0002934)7.02153140
2DNA deamination (GO:0045006)6.66767712
3hemidesmosome assembly (GO:0031581)5.22074202
4ribosomal small subunit assembly (GO:0000028)4.89451063
5respiratory chain complex IV assembly (GO:0008535)4.70257496
6exocrine pancreas development (GO:0031017)4.56311754
7positive T cell selection (GO:0043368)4.46867568
8viral transcription (GO:0019083)4.42241619
9cytochrome complex assembly (GO:0017004)4.34197419
10cytidine deamination (GO:0009972)4.25356544
11cytidine metabolic process (GO:0046087)4.25356544
12cytidine catabolic process (GO:0006216)4.25356544
13keratinocyte development (GO:0003334)4.23091139
14lactate metabolic process (GO:0006089)4.15809251
15sympathetic nervous system development (GO:0048485)4.12948803
16positive regulation of respiratory burst (GO:0060267)4.12330709
17keratinocyte proliferation (GO:0043616)4.08059284
18translational termination (GO:0006415)4.03214928
19T cell selection (GO:0045058)4.01055443
20ribosomal small subunit biogenesis (GO:0042274)3.92163232
21maturation of SSU-rRNA (GO:0030490)3.92072334
22regulation of type B pancreatic cell apoptotic process (GO:2000674)3.91190728
23limb bud formation (GO:0060174)3.86122912
24SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.81567010
25glucosamine-containing compound catabolic process (GO:1901072)3.80897967
26regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.75845831
27mesenchymal cell differentiation involved in kidney development (GO:0072161)3.72671279
28mesenchymal cell differentiation involved in renal system development (GO:2001012)3.72671279
29glandular epithelial cell differentiation (GO:0002067)3.72457144
30cotranslational protein targeting to membrane (GO:0006613)3.68613209
31protein targeting to ER (GO:0045047)3.68384486
32establishment of skin barrier (GO:0061436)3.65276840
33cell differentiation involved in metanephros development (GO:0072202)3.63600183
34negative regulation of keratinocyte proliferation (GO:0010839)3.62580298
35keratinocyte differentiation (GO:0030216)3.61650037
36inner mitochondrial membrane organization (GO:0007007)3.58992804
37signal peptide processing (GO:0006465)3.58459275
38regulation of phospholipase A2 activity (GO:0032429)3.57925533
39endocrine pancreas development (GO:0031018)3.56194037
40cellular ketone body metabolic process (GO:0046950)3.54615165
41B cell receptor signaling pathway (GO:0050853)3.54307082
42positive regulation of gamma-delta T cell activation (GO:0046645)3.52993140
43regulation of water loss via skin (GO:0033561)3.52542397
44digestion (GO:0007586)3.51052070
45negative regulation of acute inflammatory response (GO:0002674)3.50636267
46establishment of protein localization to endoplasmic reticulum (GO:0072599)3.49973509
47pyrimidine ribonucleoside catabolic process (GO:0046133)3.48200674
48regulation of cell proliferation involved in kidney development (GO:1901722)3.42040903
49ketone body metabolic process (GO:1902224)3.40670094
50mesonephros development (GO:0001823)3.39854313
51protein localization to endoplasmic reticulum (GO:0070972)3.39331278
52cornea development in camera-type eye (GO:0061303)3.36948942
53thymic T cell selection (GO:0045061)3.35774342
54regulation of keratinocyte proliferation (GO:0010837)3.34789035
55negative regulation of kidney development (GO:0090185)3.34788424
56phosphorylated carbohydrate dephosphorylation (GO:0046838)3.29256530
57inositol phosphate dephosphorylation (GO:0046855)3.29256530
58regulation of hexokinase activity (GO:1903299)3.25317201
59regulation of glucokinase activity (GO:0033131)3.25317201
60intestinal cholesterol absorption (GO:0030299)3.24745988
61positive thymic T cell selection (GO:0045059)3.24183858
62nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.23738217
63translational elongation (GO:0006414)3.23619620
64V(D)J recombination (GO:0033151)3.23527056
65inositol phosphate catabolic process (GO:0071545)3.23472929
66protein complex biogenesis (GO:0070271)3.22952741
67planar cell polarity pathway involved in neural tube closure (GO:0090179)3.21225311
68doxorubicin metabolic process (GO:0044598)3.20498098
69daunorubicin metabolic process (GO:0044597)3.20498098
70polyketide metabolic process (GO:0030638)3.20498098
71mitochondrial respiratory chain complex assembly (GO:0033108)3.15886314
72sphingoid metabolic process (GO:0046519)3.12819176
73positive regulation of glycolytic process (GO:0045821)3.12161256
74piRNA metabolic process (GO:0034587)3.09304064
75histone H3-K4 trimethylation (GO:0080182)3.07315697
76ribosomal large subunit biogenesis (GO:0042273)3.07104521
77viral life cycle (GO:0019058)3.06758954
78nitric oxide mediated signal transduction (GO:0007263)3.03210341
79cellular protein complex disassembly (GO:0043624)3.03065722
80mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.01853101
81negative regulation of axon extension involved in axon guidance (GO:0048843)3.00671999
82G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)3.00314885
83B cell proliferation (GO:0042100)2.96193736
84mannosylation (GO:0097502)2.96071445
85DNA methylation involved in gamete generation (GO:0043046)2.93016026
86antibacterial humoral response (GO:0019731)2.86773865
87detection of bacterium (GO:0016045)2.86627636
88negative regulation of axon guidance (GO:1902668)2.85419107
89regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.85181174
90negative regulation of transcription by competitive promoter binding (GO:0010944)2.84865980
91water-soluble vitamin biosynthetic process (GO:0042364)2.84462591
92maturation of 5.8S rRNA (GO:0000460)2.84009855
93nucleoside diphosphate catabolic process (GO:0009134)2.83471153
94regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.83377293
95establishment of protein localization to mitochondrial membrane (GO:0090151)2.82468913
96negative regulation of inflammatory response to antigenic stimulus (GO:0002862)2.80793292
97negative regulation of epidermal cell differentiation (GO:0045605)2.79649349
98regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022352.79636262
99electron transport chain (GO:0022900)2.79327275
100protein retention in ER lumen (GO:0006621)2.78797372
101L-alpha-amino acid transmembrane transport (GO:1902475)2.78604269
102regulation of B cell receptor signaling pathway (GO:0050855)2.78250123
103epidermal cell differentiation (GO:0009913)2.77086373
104respiratory electron transport chain (GO:0022904)2.75453733
105protein complex disassembly (GO:0043241)2.74604256
106proteasome assembly (GO:0043248)2.74483558
107regulation of cellular amino acid metabolic process (GO:0006521)2.73918981
108chaperone-mediated protein transport (GO:0072321)2.73485218
109T cell differentiation in thymus (GO:0033077)2.72452131
110CD4-positive, alpha-beta T cell differentiation (GO:0043367)2.71622456
111pteridine-containing compound biosynthetic process (GO:0042559)2.70483565
112alpha-beta T cell differentiation (GO:0046632)2.69288953
113negative regulation of gluconeogenesis (GO:0045721)2.68921267
114regulation of mitochondrial translation (GO:0070129)2.68300239
115folic acid-containing compound biosynthetic process (GO:0009396)2.66889969
116positive regulation of antigen processing and presentation (GO:0002579)2.66153875
117negative regulation of epidermis development (GO:0045683)2.65949380
118regulation of mesonephros development (GO:0061217)2.65087268
119ubiquinone biosynthetic process (GO:0006744)2.63307268
120ceramide catabolic process (GO:0046514)2.62006441
121rRNA modification (GO:0000154)2.60973062
122male meiosis I (GO:0007141)2.60951225
123cell differentiation involved in kidney development (GO:0061005)2.60948796
124pseudouridine synthesis (GO:0001522)2.59876710
125positive regulation of chemokine secretion (GO:0090197)2.59756316
126nucleobase biosynthetic process (GO:0046112)2.59035061
127antimicrobial humoral response (GO:0019730)2.58841888
128negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.58452869
129positive regulation of keratinocyte differentiation (GO:0045618)2.57992595
130preassembly of GPI anchor in ER membrane (GO:0016254)2.57965740
131negative regulation of glycogen metabolic process (GO:0070874)2.57553974
132ubiquinone metabolic process (GO:0006743)2.57461172
133protein-cofactor linkage (GO:0018065)2.57196113
134deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.56358808
135positive regulation of gastrulation (GO:2000543)2.56101674
136regulation of male gonad development (GO:2000018)2.55763283
137insulin secretion (GO:0030073)2.55677250
138multicellular organismal water homeostasis (GO:0050891)2.55257667
139positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.55029137
140alpha-beta T cell activation (GO:0046631)2.54820660
141eyelid development in camera-type eye (GO:0061029)2.53641271
142positive regulation of interleukin-1 beta secretion (GO:0050718)2.51746536
143nucleoside transmembrane transport (GO:1901642)2.51279999
144macromolecular complex disassembly (GO:0032984)2.50812788
145bundle of His cell to Purkinje myocyte communication (GO:0086069)2.50620089
146T cell differentiation (GO:0030217)2.49300863
147positive regulation of peptide hormone secretion (GO:0090277)2.48199591
148maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.47906616
149T cell homeostasis (GO:0043029)2.47611413
150viral mRNA export from host cell nucleus (GO:0046784)2.47366378
151hepatocyte apoptotic process (GO:0097284)2.46507705
152CD4-positive, alpha-beta T cell activation (GO:0035710)2.45962637
153keratinization (GO:0031424)2.44805520
154negative T cell selection (GO:0043383)2.44754997
155detection of other organism (GO:0098543)2.44349272
156lymphocyte homeostasis (GO:0002260)2.44077687
157tRNA methylation (GO:0030488)2.43124160
158polyol catabolic process (GO:0046174)2.43014238
159translational initiation (GO:0006413)2.42910064
160positive regulation of B cell proliferation (GO:0030890)2.42512877
161regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.40751781
162regulation of branching involved in ureteric bud morphogenesis (GO:0090189)2.40745745
163intestinal epithelial cell development (GO:0060576)2.40479161
164nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.40441547
165retina layer formation (GO:0010842)2.40209842
166sphingosine metabolic process (GO:0006670)2.40168922
167T-helper cell differentiation (GO:0042093)2.40153810
168CD4-positive, alpha-beta T cell differentiation involved in immune response (GO:0002294)2.40153810
169branched-chain amino acid catabolic process (GO:0009083)2.37189248
170chemosensory behavior (GO:0007635)2.37094251
171ATP synthesis coupled proton transport (GO:0015986)2.36073098
172energy coupled proton transport, down electrochemical gradient (GO:0015985)2.36073098
173pyrimidine-containing compound transmembrane transport (GO:0072531)2.35730486
174exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.35343333
175positive regulation of peptide secretion (GO:0002793)2.33453426
176negative regulation of protein oligomerization (GO:0032460)2.32627424
177rRNA methylation (GO:0031167)2.32480002
178negative regulation of ligase activity (GO:0051352)2.30298298
179negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.30298298
180tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.30283973
181RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.30283973
182regulation of chronic inflammatory response (GO:0002676)2.30282179
183mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.30142329
184mitochondrial respiratory chain complex I assembly (GO:0032981)2.30142329
185NADH dehydrogenase complex assembly (GO:0010257)2.30142329
186positive regulation of defense response to virus by host (GO:0002230)2.28688948
187diol metabolic process (GO:0034311)2.27439448
188positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.27204016
189meiosis I (GO:0007127)2.26860252
190positive regulation of histone H3-K4 methylation (GO:0051571)2.26400274
191erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.25350871
192L-phenylalanine catabolic process (GO:0006559)2.25350871
193DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.24961945
194type B pancreatic cell development (GO:0003323)2.24804364
195signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.23308855
196signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.23308855
197signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.23308855

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human8.13914112
2STAT6_21828071_ChIP-Seq_BEAS2B_Human5.25453410
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.57852227
4EZH2_22144423_ChIP-Seq_EOC_Human4.54465130
5E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.90407858
6IRF8_22096565_ChIP-ChIP_GC-B_Human3.79509246
7GABP_17652178_ChIP-ChIP_JURKAT_Human3.72456355
8NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.57217628
9EST1_17652178_ChIP-ChIP_JURKAT_Human3.34686296
10RBPJ_22232070_ChIP-Seq_NCS_Mouse3.15959651
11ELF1_17652178_ChIP-ChIP_JURKAT_Human3.11909908
12JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.11902650
13HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.78583578
14ETS1_20019798_ChIP-Seq_JURKAT_Human2.66410549
15TP63_19390658_ChIP-ChIP_HaCaT_Human2.64807729
16SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.59390282
17VDR_23849224_ChIP-Seq_CD4+_Human2.59017062
18TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.58701905
19FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.57440158
20TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.55499229
21BMI1_23680149_ChIP-Seq_NPCS_Mouse2.48282821
22SRF_21415370_ChIP-Seq_HL-1_Mouse2.47928049
23SOX9_24532713_ChIP-Seq_HFSC_Mouse2.39051922
24BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.36137195
25VDR_22108803_ChIP-Seq_LS180_Human2.29480072
26ZNF274_21170338_ChIP-Seq_K562_Hela2.26110546
27SMAD_19615063_ChIP-ChIP_OVARY_Human2.20077643
28FOXP3_21729870_ChIP-Seq_TREG_Human2.10712918
29* IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.10210317
30E2F7_22180533_ChIP-Seq_HELA_Human2.09323752
31STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.09132894
32NOTCH1_21737748_ChIP-Seq_TLL_Human2.06217342
33CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.98936493
34RUNX_20019798_ChIP-Seq_JUKART_Human1.90537649
35IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.83186091
36PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.79856829
37POU5F1_16153702_ChIP-ChIP_HESCs_Human1.79021682
38CREB1_15753290_ChIP-ChIP_HEK293T_Human1.76160237
39ELK1_19687146_ChIP-ChIP_HELA_Human1.73465288
40AR_21572438_ChIP-Seq_LNCaP_Human1.70640299
41ZFP57_27257070_Chip-Seq_ESCs_Mouse1.66674096
42CBX2_27304074_Chip-Seq_ESCs_Mouse1.64631502
43ESR1_21235772_ChIP-Seq_MCF-7_Human1.61518780
44MYC_22102868_ChIP-Seq_BL_Human1.61393481
45STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.60238378
46HOXB4_20404135_ChIP-ChIP_EML_Mouse1.56629378
47RNF2_27304074_Chip-Seq_NSC_Mouse1.56008071
48VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.54671885
49ZNF217_24962896_ChIP-Seq_MCF-7_Human1.53219667
50EZH2_27304074_Chip-Seq_ESCs_Mouse1.52534224
51MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.52290045
52AHR_22903824_ChIP-Seq_MCF-7_Human1.51330210
53IGF1R_20145208_ChIP-Seq_DFB_Human1.51269385
54* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.49566841
55TP53_18474530_ChIP-ChIP_U2OS_Human1.49564792
56RNF2_27304074_Chip-Seq_ESCs_Mouse1.48808011
57JARID2_20064375_ChIP-Seq_MESCs_Mouse1.45829100
58PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.44958287
59FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.44449449
60MYC_18555785_ChIP-Seq_MESCs_Mouse1.44443343
61HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.43842197
62CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.43365397
63EED_16625203_ChIP-ChIP_MESCs_Mouse1.42932220
64GABP_19822575_ChIP-Seq_HepG2_Human1.42549982
65ARNT_22903824_ChIP-Seq_MCF-7_Human1.41270083
66HTT_18923047_ChIP-ChIP_STHdh_Human1.41181451
67KDM5A_27292631_Chip-Seq_BREAST_Human1.38517810
68* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.37814455
69FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.37125427
70CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.36871624
71SCL_19346495_ChIP-Seq_HPC-7_Human1.36104044
72JARID2_20075857_ChIP-Seq_MESCs_Mouse1.35643994
73FOXA1_27270436_Chip-Seq_PROSTATE_Human1.35604015
74FOXA1_25329375_ChIP-Seq_VCAP_Human1.35604015
75CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.33825278
76MYC_18358816_ChIP-ChIP_MESCs_Mouse1.33205286
77TTF2_22483619_ChIP-Seq_HELA_Human1.31669043
78PIAS1_25552417_ChIP-Seq_VCAP_Human1.31612724
79CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.31336314
80GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.30323256
81PCGF2_27294783_Chip-Seq_ESCs_Mouse1.28834637
82SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.28426616
83TP53_22573176_ChIP-Seq_HFKS_Human1.28126829
84THAP11_20581084_ChIP-Seq_MESCs_Mouse1.27435006
85* RBPJ_21746931_ChIP-Seq_IB4_Human1.27084386
86FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.26604131
87AR_20517297_ChIP-Seq_VCAP_Human1.26408641
88NFE2_27457419_Chip-Seq_LIVER_Mouse1.26149126
89* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.25991667
90TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.24536200
91PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.24384926
92IRF1_19129219_ChIP-ChIP_H3396_Human1.24296752
93* P300_19829295_ChIP-Seq_ESCs_Human1.24111782
94GBX2_23144817_ChIP-Seq_PC3_Human1.22758613
95RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.22487353
96DCP1A_22483619_ChIP-Seq_HELA_Human1.22390906
97E2F4_17652178_ChIP-ChIP_JURKAT_Human1.20889818
98POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.20359231
99TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20359231
100* PHF8_20622853_ChIP-Seq_HELA_Human1.19761336
101GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.18935059
102* GATA6_21074721_ChIP-Seq_CACO-2_Human1.18193546
103PCGF2_27294783_Chip-Seq_NPCs_Mouse1.15515616
104EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.14582775
105* ETV1_20927104_ChIP-Seq_GIST48_Human1.14152298
106CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.13378028
107CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.13129274
108ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.12506426
109TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.12392808
110SUZ12_27294783_Chip-Seq_ESCs_Mouse1.10766830
111GATA3_26560356_Chip-Seq_TH2_Human1.10696209
112SUZ12_27294783_Chip-Seq_NPCs_Mouse1.10660227
113MYC_19030024_ChIP-ChIP_MESCs_Mouse1.10617531
114NANOG_18555785_Chip-Seq_ESCs_Mouse1.10215816
115FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.09615846
116PADI4_21655091_ChIP-ChIP_MCF-7_Human1.09274509
117GATA3_21878914_ChIP-Seq_MCF-7_Human1.09197715
118NANOG_19829295_ChIP-Seq_ESCs_Human1.08633259
119SOX2_19829295_ChIP-Seq_ESCs_Human1.08633259
120TAF15_26573619_Chip-Seq_HEK293_Human1.07156227
121MYC_18940864_ChIP-ChIP_HL60_Human1.06389041
122* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.06242344
123CDX2_20551321_ChIP-Seq_CACO-2_Human1.06174600
124HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.05792596
125RXR_22108803_ChIP-Seq_LS180_Human1.05284793
126E2F1_18555785_ChIP-Seq_MESCs_Mouse1.04463960
127RNF2_18974828_ChIP-Seq_MESCs_Mouse1.04291312
128EZH2_18974828_ChIP-Seq_MESCs_Mouse1.04291312
129NCOR_22424771_ChIP-Seq_293T_Human1.04279808
130TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human1.03867263
131EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.02441204
132GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02003606
133NFYB_21822215_ChIP-Seq_K562_Human1.01133816
134FLI1_27457419_Chip-Seq_LIVER_Mouse1.01023382
135YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.00935878
136* CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.00713425
137SMAD3_21741376_ChIP-Seq_EPCs_Human1.00541092
138SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.00402496
139CTBP2_25329375_ChIP-Seq_LNCAP_Human1.00115400
140GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.00096388
141YY1_21170310_ChIP-Seq_MESCs_Mouse0.99864019
142* HNFA_21074721_ChIP-Seq_CACO-2_Human0.99379096
143EGR1_23403033_ChIP-Seq_LIVER_Mouse0.99285251
144MYC_19829295_ChIP-Seq_ESCs_Human0.98783529
145EZH2_27294783_Chip-Seq_NPCs_Mouse0.98742928
146NANOG_20526341_ChIP-Seq_ESCs_Human0.98659210
147CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.98624354
148TCF4_18268006_ChIP-ChIP_LS174T_Human0.98207287
149EZH2_27294783_Chip-Seq_ESCs_Mouse0.97274750
150EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.97143907
151SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.96994394
152GATA1_22025678_ChIP-Seq_K562_Human0.96588962
153HOXB7_26014856_ChIP-Seq_BT474_Human0.96493181
154* PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.95380046
155SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.93984824
156E2F1_18555785_Chip-Seq_ESCs_Mouse0.93492161
157LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.93276988
158POU3F2_20337985_ChIP-ChIP_501MEL_Human0.92861259
159FOXA1_21572438_ChIP-Seq_LNCaP_Human0.92549348
160POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.91981754
161RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.91138669
162EWS_26573619_Chip-Seq_HEK293_Human0.90522918
163BP1_19119308_ChIP-ChIP_Hs578T_Human0.90298222
164IRF8_21731497_ChIP-ChIP_J774_Mouse0.90243492
165BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.90186825
166P53_22387025_ChIP-Seq_ESCs_Mouse0.89719464
167* SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.89534622
168NMYC_18555785_Chip-Seq_ESCs_Mouse0.89328543
169PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.89228088
170GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.89114480
171* TP53_20018659_ChIP-ChIP_R1E_Mouse0.88621223
172CIITA_25753668_ChIP-Seq_RAJI_Human0.88522051
173AR_25329375_ChIP-Seq_VCAP_Human0.88254670
174SUZ12_18555785_Chip-Seq_ESCs_Mouse0.88222490
175E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.87995776
176SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.87935719
177SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.87935719
178CTCF_18555785_Chip-Seq_ESCs_Mouse0.86060141
179ER_23166858_ChIP-Seq_MCF-7_Human0.85629394
180FUS_26573619_Chip-Seq_HEK293_Human0.85582133
181RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.85025107
182* CBX2_22325352_ChIP-Seq_293T-Rex_Human0.84911195
183NFYA_21822215_ChIP-Seq_K562_Human0.84735047
184KAP1_22055183_ChIP-Seq_ESCs_Mouse0.84276881
185FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.83345031
186FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82748657
187SOX2_18555785_Chip-Seq_ESCs_Mouse0.81132609
188STAT3_18555785_Chip-Seq_ESCs_Mouse0.79962355

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003941_abnormal_skin_development4.29590559
2MP0003195_calcinosis3.85345538
3MP0002837_dystrophic_cardiac_calcinosis3.76703561
4MP0000383_abnormal_hair_follicle3.54358644
5MP0003283_abnormal_digestive_organ3.49814803
6MP0004381_abnormal_hair_follicle3.29135568
7MP0000566_synostosis3.03712746
8MP0002796_impaired_skin_barrier2.93861835
9MP0002098_abnormal_vibrissa_morphology2.78546913
10MP0003646_muscle_fatigue2.68869550
11MP0008877_abnormal_DNA_methylation2.55140041
12MP0003806_abnormal_nucleotide_metabolis2.50685337
13MP0003763_abnormal_thymus_physiology2.46584847
14MP0002009_preneoplasia2.45580495
15MP0010678_abnormal_skin_adnexa2.30573831
16MP0005379_endocrine/exocrine_gland_phen2.24386491
17MP0002254_reproductive_system_inflammat2.21170449
18MP0002909_abnormal_adrenal_gland2.17023542
19MP0000579_abnormal_nail_morphology2.07505502
20MP0002102_abnormal_ear_morphology2.05669645
21MP0008789_abnormal_olfactory_epithelium2.04516420
22MP0000372_irregular_coat_pigmentation1.96827295
23MP0003693_abnormal_embryo_hatching1.94496770
24MP0005387_immune_system_phenotype1.94180487
25MP0001790_abnormal_immune_system1.94180487
26MP0005645_abnormal_hypothalamus_physiol1.91520527
27* MP0002060_abnormal_skin_morphology1.90238442
28MP0000685_abnormal_immune_system1.90216515
29MP0001666_abnormal_nutrient_absorption1.87833410
30MP0001800_abnormal_humoral_immune1.87244384
31MP0003453_abnormal_keratinocyte_physiol1.87228289
32MP0005409_darkened_coat_color1.85052673
33MP0003787_abnormal_imprinting1.83454929
34MP0005220_abnormal_exocrine_pancreas1.81237613
35MP0001346_abnormal_lacrimal_gland1.80464681
36MP0005501_abnormal_skin_physiology1.79836755
37* MP0001216_abnormal_epidermal_layer1.75818754
38MP0005646_abnormal_pituitary_gland1.75125830
39MP0002938_white_spotting1.74990277
40MP0002876_abnormal_thyroid_physiology1.73024592
41MP0000427_abnormal_hair_cycle1.70617544
42MP0003045_fibrosis1.69673728
43MP0003011_delayed_dark_adaptation1.68313560
44MP0002396_abnormal_hematopoietic_system1.60854484
45MP0001835_abnormal_antigen_presentation1.57854442
46* MP0002095_abnormal_skin_pigmentation1.54273394
47MP0005174_abnormal_tail_pigmentation1.53262272
48MP0005636_abnormal_mineral_homeostasis1.53189711
49* MP0010771_integument_phenotype1.50561234
50MP0004947_skin_inflammation1.50402972
51MP0005499_abnormal_olfactory_system1.50321992
52MP0005394_taste/olfaction_phenotype1.50321992
53MP0000569_abnormal_digit_pigmentation1.49610607
54MP0010094_abnormal_chromosome_stability1.49405277
55MP0004147_increased_porphyrin_level1.49055828
56MP0009379_abnormal_foot_pigmentation1.48403551
57MP0004043_abnormal_pH_regulation1.47744632
58MP0009333_abnormal_splenocyte_physiolog1.47232116
59MP0003122_maternal_imprinting1.47053879
60MP0002160_abnormal_reproductive_system1.46920977
61MP0002166_altered_tumor_susceptibility1.46672246
62MP0001919_abnormal_reproductive_system1.44968797
63MP0000467_abnormal_esophagus_morphology1.44107126
64MP0005410_abnormal_fertilization1.43702622
65MP0005671_abnormal_response_to1.40154559
66MP0003136_yellow_coat_color1.38959993
67MP0000762_abnormal_tongue_morphology1.37966913
68* MP0000377_abnormal_hair_follicle1.36790336
69MP0008995_early_reproductive_senescence1.35791852
70MP0006036_abnormal_mitochondrial_physio1.34893859
71MP0006072_abnormal_retinal_apoptosis1.34109693
72MP0001188_hyperpigmentation1.32966927
73MP0005551_abnormal_eye_electrophysiolog1.32793490
74* MP0000647_abnormal_sebaceous_gland1.32347196
75MP0003123_paternal_imprinting1.29555501
76MP0002132_abnormal_respiratory_system1.27873879
77MP0004145_abnormal_muscle_electrophysio1.27433880
78MP0000470_abnormal_stomach_morphology1.25285110
79MP0001984_abnormal_olfaction1.24343299
80MP0002928_abnormal_bile_duct1.23389555
81MP0009785_altered_susceptibility_to1.22364168
82MP0000678_abnormal_parathyroid_gland1.20986457
83MP0005075_abnormal_melanosome_morpholog1.19958365
84MP0002452_abnormal_antigen_presenting1.18546909
85MP0002006_tumorigenesis1.18384980
86MP0006292_abnormal_olfactory_placode1.16830204
87MP0001873_stomach_inflammation1.16400616
88MP0008872_abnormal_physiological_respon1.14755461
89MP0001765_abnormal_ion_homeostasis1.13889427
90MP0003385_abnormal_body_wall1.13338619
91MP0000703_abnormal_thymus_morphology1.11749031
92MP0002078_abnormal_glucose_homeostasis1.11482608
93MP0005000_abnormal_immune_tolerance1.11294231
94MP0001764_abnormal_homeostasis1.10627893
95* MP0002277_abnormal_respiratory_mucosa1.10001765
96MP0002420_abnormal_adaptive_immunity1.08256339
97MP0002638_abnormal_pupillary_reflex1.07907995
98MP0008058_abnormal_DNA_repair1.07298589
99MP0002693_abnormal_pancreas_physiology1.05202865
100MP0003866_abnormal_defecation1.05061215
101MP0002234_abnormal_pharynx_morphology1.04454264
102MP0002398_abnormal_bone_marrow1.03496183
103MP0005332_abnormal_amino_acid1.03451268
104MP0003938_abnormal_ear_development1.02831843
105MP0000015_abnormal_ear_pigmentation1.02698895
106MP0005367_renal/urinary_system_phenotyp1.02196131
107MP0000516_abnormal_urinary_system1.02196131
108MP0005253_abnormal_eye_physiology1.02132053
109MP0001819_abnormal_immune_cell1.01919447
110MP0010030_abnormal_orbit_morphology1.01488559
111MP0003121_genomic_imprinting1.01470827
112MP0009643_abnormal_urine_homeostasis1.00640503
113MP0002723_abnormal_immune_serum0.99625286
114* MP0000367_abnormal_coat/_hair0.98668216
115MP0002653_abnormal_ependyma_morphology0.96374067
116MP0008007_abnormal_cellular_replicative0.95349253
117MP0001727_abnormal_embryo_implantation0.94251021
118MP0003755_abnormal_palate_morphology0.93989896
119MP0004782_abnormal_surfactant_physiolog0.93829310
120MP0010234_abnormal_vibrissa_follicle0.93506617
121* MP0001340_abnormal_eyelid_morphology0.93117236
122MP0009046_muscle_twitch0.91335852
123* MP0009931_abnormal_skin_appearance0.91313457
124MP0000716_abnormal_immune_system0.89657690
125MP0002233_abnormal_nose_morphology0.89297341
126MP0002138_abnormal_hepatobiliary_system0.89158415
127MP0002249_abnormal_larynx_morphology0.88696315
128MP0008875_abnormal_xenobiotic_pharmacok0.88610535
129MP0003879_abnormal_hair_cell0.88321514
130MP0000465_gastrointestinal_hemorrhage0.86863341
131MP0001929_abnormal_gametogenesis0.86757482
132MP0001851_eye_inflammation0.86499532
133MP0003786_premature_aging0.86095313
134MP0003942_abnormal_urinary_system0.85937971
135MP0003718_maternal_effect0.85910219
136MP0000627_abnormal_mammary_gland0.85180786
137MP0000689_abnormal_spleen_morphology0.83937028
138* MP0002177_abnormal_outer_ear0.83570860
139MP0001191_abnormal_skin_condition0.83554214
140MP0010155_abnormal_intestine_physiology0.83073612
141MP0005377_hearing/vestibular/ear_phenot0.82333783
142MP0003878_abnormal_ear_physiology0.82333783
143MP0004885_abnormal_endolymph0.82217268
144MP0002722_abnormal_immune_system0.82113317
145MP0005248_abnormal_Harderian_gland0.81818685
146MP0005083_abnormal_biliary_tract0.81094828
147MP0005389_reproductive_system_phenotype0.80994770
148MP0001664_abnormal_digestion0.80775541
149MP0003943_abnormal_hepatobiliary_system0.80080319
150MP0003953_abnormal_hormone_level0.79184740
151MP0002163_abnormal_gland_morphology0.79048407
152* MP0001186_pigmentation_phenotype0.78744652
153MP0009250_abnormal_appendicular_skeleto0.78667084
154MP0005257_abnormal_intraocular_pressure0.78505908
155MP0004957_abnormal_blastocyst_morpholog0.77807985
156MP0002148_abnormal_hypersensitivity_rea0.77716886
157MP0001986_abnormal_taste_sensitivity0.76791534
158MP0001944_abnormal_pancreas_morphology0.76516313
159MP0003868_abnormal_feces_composition0.74970074
160MP0006035_abnormal_mitochondrial_morpho0.73759816
161MP0002210_abnormal_sex_determination0.72963713
162MP0005448_abnormal_energy_balance0.72623787
163MP0001661_extended_life_span0.67827717
164MP0001845_abnormal_inflammatory_respons0.65369901
165MP0006082_CNS_inflammation0.65318055

Predicted human phenotypes

RankGene SetZ-score
1Hypoglycemic seizures (HP:0002173)5.54686108
2Lip pit (HP:0100267)5.17856413
3Agammaglobulinemia (HP:0004432)4.88089036
4Hypoglycemic coma (HP:0001325)4.76117971
5Hyperinsulinemic hypoglycemia (HP:0000825)4.75532215
6Absent eyebrow (HP:0002223)4.60132572
7Ketoacidosis (HP:0001993)4.39164481
8Symptomatic seizures (HP:0011145)4.17616668
9Abnormality of the pancreatic islet cells (HP:0006476)3.82392689
10Abnormality of endocrine pancreas physiology (HP:0012093)3.82392689
11Fragile nails (HP:0001808)3.82309347
12Absent eyelashes (HP:0000561)3.78243899
13Plantar hyperkeratosis (HP:0007556)3.73299232
14Onycholysis (HP:0001806)3.69999137
15Milia (HP:0001056)3.57119447
16Hyperglycemia (HP:0003074)3.55235228
17Parakeratosis (HP:0001036)3.39042747
18Hypomagnesemia (HP:0002917)3.10159379
19Ketosis (HP:0001946)3.08728969
20Morphological abnormality of the middle ear (HP:0008609)3.05011149
21Acute necrotizing encephalopathy (HP:0006965)3.03077300
22Hepatic necrosis (HP:0002605)3.00011323
23Abnormality of the lacrimal duct (HP:0011481)2.99399803
24Abnormality of cells of the erythroid lineage (HP:0012130)2.94891246
25Mitochondrial inheritance (HP:0001427)2.91781043
26Congenital stationary night blindness (HP:0007642)2.89873740
27Increased CSF lactate (HP:0002490)2.88196846
28Abnormal number of erythroid precursors (HP:0012131)2.84586621
29Wide intermamillary distance (HP:0006610)2.83448144
30Woolly hair (HP:0002224)2.83347853
31Increased hepatocellular lipid droplets (HP:0006565)2.82092120
32Progressive macrocephaly (HP:0004481)2.78677354
33Abnormal pancreas size (HP:0012094)2.78515917
34Aplasia cutis congenita (HP:0001057)2.77920433
35Thyroiditis (HP:0100646)2.74036440
36Molar tooth sign on MRI (HP:0002419)2.73247980
37Abnormality of midbrain morphology (HP:0002418)2.73247980
38Lipid accumulation in hepatocytes (HP:0006561)2.71955191
39Pancreatic islet-cell hyperplasia (HP:0004510)2.67799176
40Verrucae (HP:0200043)2.67768744
41Papilloma (HP:0012740)2.67768744
42Panhypogammaglobulinemia (HP:0003139)2.67554067
43Chronic sinusitis (HP:0011109)2.64511731
44Pancreatic cysts (HP:0001737)2.63459421
45Abnormal mitochondria in muscle tissue (HP:0008316)2.63222188
46Hypotrichosis (HP:0001006)2.62980299
47Palmoplantar hyperkeratosis (HP:0000972)2.59625272
48Large for gestational age (HP:0001520)2.59403164
49Hypoproteinemia (HP:0003075)2.59043163
50Aplastic anemia (HP:0001915)2.57060730
51Curly hair (HP:0002212)2.56975800
52Abnormality of the nasolacrimal system (HP:0000614)2.54595853
53Reticulocytopenia (HP:0001896)2.53940985
54Hyperthyroidism (HP:0000836)2.53725788
55Pili torti (HP:0003777)2.52949962
56Meningitis (HP:0001287)2.52856048
57Abnormality of B cell number (HP:0010975)2.52538312
58B lymphocytopenia (HP:0010976)2.52538312
59Palmar hyperkeratosis (HP:0010765)2.52114558
60Acute encephalopathy (HP:0006846)2.51979722
61Absent hair (HP:0002298)2.50890965
62Sparse scalp hair (HP:0002209)2.50596754
633-Methylglutaconic aciduria (HP:0003535)2.50207523
64Hepatocellular necrosis (HP:0001404)2.47661538
65Pancreatic fibrosis (HP:0100732)2.44886227
66Nasolacrimal duct obstruction (HP:0000579)2.43763597
67Late onset (HP:0003584)2.43641753
68Hypoparathyroidism (HP:0000829)2.43448135
69Abnormality of magnesium homeostasis (HP:0004921)2.39817404
70Prominent metopic ridge (HP:0005487)2.38684868
71Sepsis (HP:0100806)2.38663751
72Insulin-resistant diabetes mellitus (HP:0000831)2.38565714
73Cellulitis (HP:0100658)2.38525611
74Ectropion (HP:0000656)2.38358499
75Methylmalonic aciduria (HP:0012120)2.38136678
76Sparse lateral eyebrow (HP:0005338)2.33167196
77Chronic otitis media (HP:0000389)2.32563255
78Tetany (HP:0001281)2.31426182
79Natal tooth (HP:0000695)2.30939438
80Abnormality of the intervertebral disk (HP:0005108)2.29573769
81Methylmalonic acidemia (HP:0002912)2.28910958
82Osteomyelitis (HP:0002754)2.25796890
83Hypoplastic labia majora (HP:0000059)2.24231032
84Abnormality of the renal cortex (HP:0011035)2.23685679
85Renal Fanconi syndrome (HP:0001994)2.20721677
86Renal cortical cysts (HP:0000803)2.15632952
87Aplasia/Hypoplasia of the sternum (HP:0006714)2.15606294
88Hypokinesia (HP:0002375)2.15279584
89Tongue fasciculations (HP:0001308)2.15202378
90Type I diabetes mellitus (HP:0100651)2.13973274
91White forelock (HP:0002211)2.13496144
92Abnormality of the pons (HP:0007361)2.12145429
93True hermaphroditism (HP:0010459)2.11828286
94Increased serum lactate (HP:0002151)2.10091684
95Abnormality of the axillary hair (HP:0100134)2.09139014
96Abnormality of secondary sexual hair (HP:0009888)2.09139014
97Abnormality of the nasal septum (HP:0000419)2.07356754
98Abnormality of the fingertips (HP:0001211)2.06359587
99Severe combined immunodeficiency (HP:0004430)2.06316359
100Popliteal pterygium (HP:0009756)2.05747249
101Respiratory failure (HP:0002878)2.05239574
102Alveolar cell carcinoma (HP:0006519)2.05006177
103Patchy hypopigmentation of hair (HP:0011365)2.04633275
104Lactic acidosis (HP:0003128)2.03745585
105Cheilitis (HP:0100825)2.01397872
106Periauricular skin pits (HP:0100277)2.01194512
107Preauricular pit (HP:0004467)2.01194512
108Gastrointestinal stroma tumor (HP:0100723)2.00116330
109Abnormality of the labia majora (HP:0012881)1.99429177
110Abnormality of the metopic suture (HP:0005556)1.99388823
111Recurrent viral infections (HP:0004429)1.98597197
112Abnormality of aspartate family amino acid metabolism (HP:0010899)1.98429953
113Increased intramyocellular lipid droplets (HP:0012240)1.97466227
114Oligodontia (HP:0000677)1.97366284
115Volvulus (HP:0002580)1.96724936
116Hypoplasia of the pons (HP:0012110)1.96205584
117Amelogenesis imperfecta (HP:0000705)1.95858177
118Furrowed tongue (HP:0000221)1.95695362
119Abnormality of methionine metabolism (HP:0010901)1.95687573
120Abnormality of small intestinal villus morphology (HP:0011472)1.94787868
121Villous atrophy (HP:0011473)1.94787868
122Cerebral edema (HP:0002181)1.93809680
123Stomatitis (HP:0010280)1.93290000
124Hypothermia (HP:0002045)1.92386684
125Attenuation of retinal blood vessels (HP:0007843)1.92221088
126Erythroderma (HP:0001019)1.91593278
127Abnormality of dicarboxylic acid metabolism (HP:0010995)1.91082964
128Dicarboxylic aciduria (HP:0003215)1.91082964
129Inflammation of the large intestine (HP:0002037)1.90950300
130Small epiphyses (HP:0010585)1.90755419
131Colon cancer (HP:0003003)1.90446975
132Neoplasm of the adrenal cortex (HP:0100641)1.90379510
133Recurrent sinusitis (HP:0011108)1.89069858
134Hypoplasia of the fovea (HP:0007750)1.88064843
135Aplasia/Hypoplasia of the fovea (HP:0008060)1.88064843
136Skin pits (HP:0100276)1.87551593
137Abnormal delayed hypersensitivity skin test (HP:0002963)1.87181438
138Recurrent bronchitis (HP:0002837)1.86496370
139Sparse eyelashes (HP:0000653)1.86141274
140Dehydration (HP:0001944)1.85203923
141Deep philtrum (HP:0002002)1.84673333
142Abnormality of urine glucose concentration (HP:0011016)1.84554216
143Glycosuria (HP:0003076)1.84554216
144Neoplasm of the tracheobronchial system (HP:0100552)1.83740905
145Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.83044453
146Decreased activity of mitochondrial respiratory chain (HP:0008972)1.83044453
147Anophthalmia (HP:0000528)1.83031462
148Elevated erythrocyte sedimentation rate (HP:0003565)1.82928545
149Alopecia of scalp (HP:0002293)1.81198781
150Nephronophthisis (HP:0000090)1.80583003
151Type I transferrin isoform profile (HP:0003642)1.80301806
152Lethargy (HP:0001254)1.80040457
153Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.79734035
154Hypoplasia of the thymus (HP:0000778)1.78255414
155Neoplasm of the adrenal gland (HP:0100631)1.76997914
156Congenital malformation of the right heart (HP:0011723)1.76679775
157Double outlet right ventricle (HP:0001719)1.76679775
158Intestinal atresia (HP:0011100)1.75958045
159Conjugated hyperbilirubinemia (HP:0002908)1.75568592
160Abnormality of the preputium (HP:0100587)1.75280413
161Vertebral arch anomaly (HP:0008438)1.75217932
162Atrophic scars (HP:0001075)1.75092758
163Blepharitis (HP:0000498)1.75061730
164Nail dystrophy (HP:0008404)1.74668190
165Optic nerve hypoplasia (HP:0000609)1.74518294
166Type II lissencephaly (HP:0007260)1.74333329
167Tented upper lip vermilion (HP:0010804)1.74018039
168Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.73902687
169* Hypohidrosis (HP:0000966)1.72995721
170Abnormality of incisor morphology (HP:0011063)1.72983401
171Abnormal drinking behavior (HP:0030082)1.72930966
172Polydipsia (HP:0001959)1.72930966
173Gastrointestinal inflammation (HP:0004386)1.72300839
174Ankyloglossia (HP:0010296)1.72063799
175Abnormal rod and cone electroretinograms (HP:0008323)1.72038503
176Septate vagina (HP:0001153)1.71850652
177Advanced eruption of teeth (HP:0006288)1.71702387
178Hypochromic anemia (HP:0001931)1.71551876
179Erythema (HP:0010783)1.71444328
180Medial flaring of the eyebrow (HP:0010747)1.70343343
181Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.70220843
182Neoplasm of the lung (HP:0100526)1.70033695
183IgM deficiency (HP:0002850)1.69760377
184Decreased electroretinogram (ERG) amplitude (HP:0000654)1.69382951
185Cutaneous finger syndactyly (HP:0010554)1.68832801
186Increased muscle lipid content (HP:0009058)1.67979628
187Abnormal hemoglobin (HP:0011902)1.67907846
188Thick nail (HP:0001805)1.67892416
189Pustule (HP:0200039)1.67743790
190Cupped ear (HP:0000378)1.67729559
191Septo-optic dysplasia (HP:0100842)1.67319528
192Abnormality of aromatic amino acid family metabolism (HP:0004338)1.67028862
193Adrenal hypoplasia (HP:0000835)1.65563028
194Abnormality of vitamin B metabolism (HP:0004340)1.64694040
195Acute hepatic failure (HP:0006554)1.63415059
196Decreased central vision (HP:0007663)1.63115198
197Chronic hepatic failure (HP:0100626)1.62969904
198Aplasia/Hypoplasia of the uvula (HP:0010293)1.62510777

Predicted kinase interactions (KEA)

RankGene SetZ-score
1AKT34.46386912
2LATS12.94528777
3CASK2.88943838
4SGK22.58441883
5NME12.56043465
6BCKDK2.24309222
7PRPF4B2.19012792
8SIK32.15116075
9MUSK2.09821172
10STK162.06409156
11TESK21.99608602
12ERN11.98717615
13MAP4K11.97587348
14VRK21.94960484
15BRSK21.92064228
16IRAK31.80934686
17MAP3K101.78548725
18TAOK31.75599487
19MST1R1.74947885
20NUAK11.73737335
21YES11.72618394
22MAP2K61.66908872
23CDK31.62599691
24SGK31.58901447
25MKNK11.54285339
26RPS6KB21.52892452
27TXK1.52668547
28MAP3K141.52180405
29IKBKE1.51388158
30PLK31.47736657
31MKNK21.45480685
32SGK2231.43437484
33SGK4941.43437484
34SIK11.42797642
35KDR1.38450995
36ZAK1.37005727
37TNK21.32988533
38BTK1.31426490
39TAF11.30496277
40BLK1.29294154
41SIK21.28705973
42EIF2AK31.28421021
43MAPKAPK31.26718802
44ERBB31.25392323
45SRPK11.24498602
46FRK1.23992199
47TLK11.22764042
48EIF2AK21.22675332
49SYK1.22550214
50GRK61.22510090
51BUB11.20267050
52MST41.16809774
53STK241.14409783
54NTRK21.13884440
55DAPK21.13593456
56PIM11.06897399
57BMPR21.05705370
58TYK21.05220929
59CHUK1.05001180
60MAP3K131.03309422
61IKBKB1.02707541
62EIF2AK11.00927395
63FGFR31.00236688
64WNK30.99160770
65PRKAA20.98456079
66NLK0.98363648
67MAPKAPK50.98254857
68WNK40.97797818
69IRAK10.96416142
70MAPK70.92849246
71IRAK40.92619454
72BRAF0.92123145
73DYRK1A0.90876436
74HIPK20.90054861
75BRD40.90026522
76DYRK30.89290053
77MAPK130.88741269
78STK40.88205618
79GRK10.87531642
80PASK0.86098048
81CDK80.85349842
82PRKCQ0.84866871
83ATR0.84643745
84DYRK1B0.83781039
85PLK10.83534104
86ACVR1B0.83375329
87CSNK1G10.83208981
88JAK10.83106124
89IRAK20.80878777
90RPS6KB10.79318905
91CSNK1G30.78710174
92TSSK60.78707246
93ZAP700.77622556
94EEF2K0.76574143
95NME20.75121306
96MAP3K120.74076838
97PIM20.71809125
98TEC0.70747579
99BMPR1B0.69931637
100CSF1R0.69176304
101RIPK40.69077047
102INSRR0.68450236
103RPS6KA40.66488050
104MAP3K20.66320343
105DAPK10.65253060
106LYN0.65200646
107STK30.64315334
108STK100.63948635
109PHKG10.63037470
110PHKG20.63037470
111TTK0.62904217
112RPS6KL10.62773424
113RPS6KC10.62773424
114LRRK20.61874574
115ADRBK20.61188516
116MAP3K30.58555118
117HCK0.58073401
118TAOK20.57917086
119TRPM70.57084284
120CDK120.56899631
121MAP4K20.56726548
122ATM0.56709731
123MAPK30.56402928
124CDK40.55618043
125MELK0.54838877
126FGFR20.54800551
127CDK60.53775250
128BRSK10.53737646
129STK38L0.53479834
130NTRK30.53330594
131CSNK2A20.51088045
132MAP2K20.51083116
133ITK0.51008277
134PRKCG0.50959831
135RPS6KA20.50921142
136CDK90.50863155
137CHEK20.50775595
138MAPKAPK20.50620195
139PDK20.50536445
140TRIM280.50377136
141ALK0.50217196
142RPS6KA60.49946696
143PRKCH0.49410972
144LCK0.48864783
145MAP2K70.47998044
146EPHA20.47929203
147VRK10.47690280
148PRKCI0.47008964
149CDC70.46217632
150FER0.44091004
151TBK10.44051652
152MAP3K40.43284750
153CSNK2A10.42917990
154RPS6KA50.42666160
155CSNK1A1L0.42212458
156CSNK1G20.41583372
157NEK10.41353722
158CSNK1A10.40641547
159MAP3K70.37810182
160PLK40.34880957
161PRKCA0.34714932
162MARK30.32388798
163PAK30.31962520

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053403.95165713
2Proteasome_Homo sapiens_hsa030503.09930451
3Pancreatic secretion_Homo sapiens_hsa049723.07871869
4Ribosome_Homo sapiens_hsa030102.95152642
5Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.76016230
6Butanoate metabolism_Homo sapiens_hsa006502.65403019
7Oxidative phosphorylation_Homo sapiens_hsa001902.57476679
8B cell receptor signaling pathway_Homo sapiens_hsa046622.41703301
9Cyanoamino acid metabolism_Homo sapiens_hsa004602.36057175
10Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.28621065
11Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.28020005
12Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.01807642
13Hematopoietic cell lineage_Homo sapiens_hsa046401.98171118
14Basal cell carcinoma_Homo sapiens_hsa052171.96653394
15Protein digestion and absorption_Homo sapiens_hsa049741.92842022
16Fatty acid elongation_Homo sapiens_hsa000621.89661179
17One carbon pool by folate_Homo sapiens_hsa006701.85713607
18Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.82173432
19RNA polymerase_Homo sapiens_hsa030201.79406163
20NF-kappa B signaling pathway_Homo sapiens_hsa040641.75192065
21Parkinsons disease_Homo sapiens_hsa050121.73726251
22Tryptophan metabolism_Homo sapiens_hsa003801.71243884
23Protein export_Homo sapiens_hsa030601.65561184
24Non-homologous end-joining_Homo sapiens_hsa034501.64912738
25Maturity onset diabetes of the young_Homo sapiens_hsa049501.56792149
26Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.56233163
27Intestinal immune network for IgA production_Homo sapiens_hsa046721.53965110
28Basal transcription factors_Homo sapiens_hsa030221.51377672
29Notch signaling pathway_Homo sapiens_hsa043301.45732958
30Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.44002720
31Measles_Homo sapiens_hsa051621.40249186
32Mismatch repair_Homo sapiens_hsa034301.36623171
33Propanoate metabolism_Homo sapiens_hsa006401.36489635
34RNA degradation_Homo sapiens_hsa030181.35689825
35Peroxisome_Homo sapiens_hsa041461.35474248
36Influenza A_Homo sapiens_hsa051641.33328592
37Cysteine and methionine metabolism_Homo sapiens_hsa002701.33313047
38DNA replication_Homo sapiens_hsa030301.32823064
39Selenocompound metabolism_Homo sapiens_hsa004501.32252599
40Endometrial cancer_Homo sapiens_hsa052131.31133954
41Collecting duct acid secretion_Homo sapiens_hsa049661.27879710
42Phototransduction_Homo sapiens_hsa047441.27267261
43Non-small cell lung cancer_Homo sapiens_hsa052231.26497788
44Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.26053857
45T cell receptor signaling pathway_Homo sapiens_hsa046601.24853167
46Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.24555989
47Sulfur metabolism_Homo sapiens_hsa009201.22552767
48Steroid biosynthesis_Homo sapiens_hsa001001.21080416
49Transcriptional misregulation in cancer_Homo sapiens_hsa052021.20960216
50Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.18794630
51Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.17063104
52Type II diabetes mellitus_Homo sapiens_hsa049301.15624893
53Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.13231976
54Fat digestion and absorption_Homo sapiens_hsa049751.12690567
55Herpes simplex infection_Homo sapiens_hsa051681.10949941
56Insulin secretion_Homo sapiens_hsa049111.07535626
57Pyrimidine metabolism_Homo sapiens_hsa002401.05805765
58Huntingtons disease_Homo sapiens_hsa050161.02947357
59p53 signaling pathway_Homo sapiens_hsa041151.02752804
60Fatty acid metabolism_Homo sapiens_hsa012121.02432745
61Hedgehog signaling pathway_Homo sapiens_hsa043401.02167134
62Sphingolipid metabolism_Homo sapiens_hsa006001.00394937
63Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.00037598
64Folate biosynthesis_Homo sapiens_hsa007900.99900791
65Wnt signaling pathway_Homo sapiens_hsa043100.99277423
66Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.99105375
67Acute myeloid leukemia_Homo sapiens_hsa052210.98330176
68Regulation of autophagy_Homo sapiens_hsa041400.97979010
69Antigen processing and presentation_Homo sapiens_hsa046120.97032559
70Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.96700664
71Purine metabolism_Homo sapiens_hsa002300.96479599
72Jak-STAT signaling pathway_Homo sapiens_hsa046300.95417002
73Prostate cancer_Homo sapiens_hsa052150.93139990
74Phosphatidylinositol signaling system_Homo sapiens_hsa040700.92715381
75RNA transport_Homo sapiens_hsa030130.91576124
76Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.89012221
77Alzheimers disease_Homo sapiens_hsa050100.88326426
78Fatty acid degradation_Homo sapiens_hsa000710.85565910
79Toxoplasmosis_Homo sapiens_hsa051450.84154523
80MicroRNAs in cancer_Homo sapiens_hsa052060.83097010
81Base excision repair_Homo sapiens_hsa034100.83091881
82Toll-like receptor signaling pathway_Homo sapiens_hsa046200.82367045
83Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.80769221
84Osteoclast differentiation_Homo sapiens_hsa043800.79919795
85HTLV-I infection_Homo sapiens_hsa051660.79728295
86beta-Alanine metabolism_Homo sapiens_hsa004100.78430471
87Hepatitis C_Homo sapiens_hsa051600.77649407
88Homologous recombination_Homo sapiens_hsa034400.76016478
89Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.75810096
90Small cell lung cancer_Homo sapiens_hsa052220.75191928
91Ovarian steroidogenesis_Homo sapiens_hsa049130.73878447
92Epstein-Barr virus infection_Homo sapiens_hsa051690.73438466
93Metabolic pathways_Homo sapiens_hsa011000.73019439
94FoxO signaling pathway_Homo sapiens_hsa040680.71887615
95Thyroid cancer_Homo sapiens_hsa052160.71064891
96Rheumatoid arthritis_Homo sapiens_hsa053230.69641876
97Melanogenesis_Homo sapiens_hsa049160.69492420
98ErbB signaling pathway_Homo sapiens_hsa040120.68695674
99Glutathione metabolism_Homo sapiens_hsa004800.68172268
100Hepatitis B_Homo sapiens_hsa051610.68099005
101Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.68058261
102Inositol phosphate metabolism_Homo sapiens_hsa005620.67980445
103Arachidonic acid metabolism_Homo sapiens_hsa005900.67546438
104Asthma_Homo sapiens_hsa053100.66788095
105Fanconi anemia pathway_Homo sapiens_hsa034600.65450408
106Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.64194856
107RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.62998508
108SNARE interactions in vesicular transport_Homo sapiens_hsa041300.62223974
109Linoleic acid metabolism_Homo sapiens_hsa005910.62180581
110NOD-like receptor signaling pathway_Homo sapiens_hsa046210.61566989
111Axon guidance_Homo sapiens_hsa043600.61027676
112Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.60797215
113Leishmaniasis_Homo sapiens_hsa051400.60581102
114Pathways in cancer_Homo sapiens_hsa052000.59560881
115Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.59183340
116Spliceosome_Homo sapiens_hsa030400.58808293
117mRNA surveillance pathway_Homo sapiens_hsa030150.58602747
118Colorectal cancer_Homo sapiens_hsa052100.58268100
119Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.57565938
120Tyrosine metabolism_Homo sapiens_hsa003500.57427818
121Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.57200935
122Vitamin digestion and absorption_Homo sapiens_hsa049770.56195905
123Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.55972820
124Adherens junction_Homo sapiens_hsa045200.54705851
125Autoimmune thyroid disease_Homo sapiens_hsa053200.54580276
126Lysine degradation_Homo sapiens_hsa003100.54543443
127Nitrogen metabolism_Homo sapiens_hsa009100.54482523
128Chemokine signaling pathway_Homo sapiens_hsa040620.54422458
129Ether lipid metabolism_Homo sapiens_hsa005650.54405471
130Prolactin signaling pathway_Homo sapiens_hsa049170.53592442
131Graft-versus-host disease_Homo sapiens_hsa053320.53526304
132Chronic myeloid leukemia_Homo sapiens_hsa052200.53439210
133alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.53292340
134N-Glycan biosynthesis_Homo sapiens_hsa005100.52834175
135Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.52333496
136Calcium signaling pathway_Homo sapiens_hsa040200.50061714
137Circadian rhythm_Homo sapiens_hsa047100.49866083
138Pancreatic cancer_Homo sapiens_hsa052120.48949219
139Tuberculosis_Homo sapiens_hsa051520.48254097
140Type I diabetes mellitus_Homo sapiens_hsa049400.45815056
141Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.45598521
142Melanoma_Homo sapiens_hsa052180.45442720
143Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.45216135
144Apoptosis_Homo sapiens_hsa042100.44423106
145Choline metabolism in cancer_Homo sapiens_hsa052310.43935355
146Viral carcinogenesis_Homo sapiens_hsa052030.43437759
147Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.42754859
148Taste transduction_Homo sapiens_hsa047420.42719340
149Nucleotide excision repair_Homo sapiens_hsa034200.42501780
150Retinol metabolism_Homo sapiens_hsa008300.41241117
151Hippo signaling pathway_Homo sapiens_hsa043900.41214135
152Renin-angiotensin system_Homo sapiens_hsa046140.40869727
153Caffeine metabolism_Homo sapiens_hsa002320.40584782
154Pentose and glucuronate interconversions_Homo sapiens_hsa000400.39865076
155Allograft rejection_Homo sapiens_hsa053300.39175404
156Neurotrophin signaling pathway_Homo sapiens_hsa047220.38956225
157TNF signaling pathway_Homo sapiens_hsa046680.38842705
158Vibrio cholerae infection_Homo sapiens_hsa051100.38770828
159Sulfur relay system_Homo sapiens_hsa041220.38193722
160ABC transporters_Homo sapiens_hsa020100.37721570
161Alcoholism_Homo sapiens_hsa050340.37300203
162Viral myocarditis_Homo sapiens_hsa054160.36794663
163Cardiac muscle contraction_Homo sapiens_hsa042600.34284676
164Primary bile acid biosynthesis_Homo sapiens_hsa001200.28504385
165Chemical carcinogenesis_Homo sapiens_hsa052040.28261136
166Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.27818828

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