HIF3A

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: The protein encoded by this gene is the alpha-3 subunit of one of several alpha/beta-subunit heterodimeric transcription factors that regulate many adaptive responses to low oxygen tension (hypoxia). The alpha-3 subunit lacks the transactivation domain found in factors containing either the alpha-1 or alpha-2 subunits. It is thought that factors containing the alpha-3 subunit are negative regulators of hypoxia-inducible gene expression. Multiple alternatively spliced transcript variants have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sleep (GO:0030431)5.76222165
2negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)5.14710572
3response to gravity (GO:0009629)5.05531801
4morphogenesis of an endothelium (GO:0003159)4.95660538
5endothelial tube morphogenesis (GO:0061154)4.95660538
6paraxial mesoderm development (GO:0048339)4.39634932
7mitotic sister chromatid cohesion (GO:0007064)4.34211333
8acrosome assembly (GO:0001675)4.32979908
9detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)4.28416153
10sequestering of actin monomers (GO:0042989)4.25308924
11positive regulation of endothelial cell differentiation (GO:0045603)4.23433589
12negative regulation of DNA-templated transcription, elongation (GO:0032785)4.15318827
13cell proliferation involved in metanephros development (GO:0072203)4.13847308
14kinetochore organization (GO:0051383)4.10034304
15negative regulation of T cell differentiation in thymus (GO:0033085)4.07461745
16establishment of integrated proviral latency (GO:0075713)4.03207106
17negative regulation of thymocyte apoptotic process (GO:0070244)4.00192204
18extracellular fibril organization (GO:0043206)3.98485073
19establishment of viral latency (GO:0019043)3.93205203
20lateral sprouting from an epithelium (GO:0060601)3.86229722
21proteasome assembly (GO:0043248)3.83757396
22protoporphyrinogen IX metabolic process (GO:0046501)3.80274149
23deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.79213797
24regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.78523140
25DNA deamination (GO:0045006)3.77467426
26protoporphyrinogen IX biosynthetic process (GO:0006782)3.75474965
27regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)3.74994672
28mitotic chromosome condensation (GO:0007076)3.73518839
29protein complex biogenesis (GO:0070271)3.73504962
30mitotic nuclear envelope reassembly (GO:0007084)3.72686549
31nuclear envelope reassembly (GO:0031468)3.72686549
32galactose catabolic process (GO:0019388)3.71475076
33mannosylation (GO:0097502)3.69537839
34regulation of glomerulus development (GO:0090192)3.68127945
35mitochondrial respiratory chain complex I assembly (GO:0032981)3.66712358
36NADH dehydrogenase complex assembly (GO:0010257)3.66712358
37mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.66712358
38sister chromatid segregation (GO:0000819)3.66068851
39kinetochore assembly (GO:0051382)3.59854702
40detection of chemical stimulus involved in sensory perception of taste (GO:0050912)3.59563041
41regulation of sister chromatid cohesion (GO:0007063)3.58280881
42mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)3.55998888
43mesenchymal cell differentiation involved in kidney development (GO:0072161)3.54469750
44mesenchymal cell differentiation involved in renal system development (GO:2001012)3.54469750
45planar cell polarity pathway involved in neural tube closure (GO:0090179)3.53902123
46mitotic sister chromatid segregation (GO:0000070)3.52602204
47respiratory tube development (GO:0030323)3.51578363
48embryonic skeletal joint morphogenesis (GO:0060272)3.49382424
49regulation of non-canonical Wnt signaling pathway (GO:2000050)3.48814957
50adenosine metabolic process (GO:0046085)3.47593590
51positive regulation of mitochondrial fission (GO:0090141)3.46381463
52positive regulation of actin filament depolymerization (GO:0030836)3.43556760
53negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.43534324
54secondary heart field specification (GO:0003139)3.42977805
55heart field specification (GO:0003128)3.42977805
56mitochondrial respiratory chain complex assembly (GO:0033108)3.41993448
57protein localization to kinetochore (GO:0034501)3.41139177
58regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.41096888
59nuclear pore complex assembly (GO:0051292)3.38636188
60negative regulation of metanephros development (GO:0072217)3.38500513
61mesonephros development (GO:0001823)3.38129568
62energy coupled proton transport, down electrochemical gradient (GO:0015985)3.37096342
63ATP synthesis coupled proton transport (GO:0015986)3.37096342
64regulation of endothelial cell differentiation (GO:0045601)3.36026092
65mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.35288409
66DNA unwinding involved in DNA replication (GO:0006268)3.34807480
67pre-miRNA processing (GO:0031054)3.33282299
68positive regulation of cardiac muscle cell differentiation (GO:2000727)3.33052502
69preassembly of GPI anchor in ER membrane (GO:0016254)3.30615863
70glucocorticoid receptor signaling pathway (GO:0042921)3.29543652
71meiotic chromosome segregation (GO:0045132)3.29332677
72nuclear pore organization (GO:0006999)3.29303489
73negative regulation of kidney development (GO:0090185)3.28781009
74fibril organization (GO:0097435)3.26764096
75regulation of mitochondrial translation (GO:0070129)3.24689553
76head development (GO:0060322)3.24503333
77insulin-like growth factor receptor signaling pathway (GO:0048009)3.23310477
78exocrine pancreas development (GO:0031017)3.23277335
79protein maturation by protein folding (GO:0022417)3.18843936
80pattern specification involved in kidney development (GO:0061004)3.18771106
81C-terminal protein lipidation (GO:0006501)3.16379151
82mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.12848676
83hippo signaling (GO:0035329)3.12416243
84galactose metabolic process (GO:0006012)3.12250850
85positive regulation of DNA-dependent DNA replication (GO:2000105)3.11484469
86protein localization to chromosome, centromeric region (GO:0071459)3.09490557
87transcription elongation from RNA polymerase III promoter (GO:0006385)3.06606247
88termination of RNA polymerase III transcription (GO:0006386)3.06606247
89L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.05300968
90myoblast migration (GO:0051451)3.05259659
91lung morphogenesis (GO:0060425)3.04641121
92cell proliferation involved in kidney development (GO:0072111)3.03737083
93regulation of cell proliferation involved in kidney development (GO:1901722)3.02266448
94mitotic metaphase plate congression (GO:0007080)3.01730926
95notochord development (GO:0030903)3.00193176
96cardiac myofibril assembly (GO:0055003)3.00004929
97organ induction (GO:0001759)2.99436453
98endocardial cushion development (GO:0003197)2.97981051
99metaphase plate congression (GO:0051310)2.97433669
100regulation of spindle organization (GO:0090224)2.96155402
101negative regulation of histone methylation (GO:0031061)2.95742632
102electron transport chain (GO:0022900)2.95718566
103metallo-sulfur cluster assembly (GO:0031163)2.95643787
104iron-sulfur cluster assembly (GO:0016226)2.95643787
105chaperone-mediated protein transport (GO:0072321)2.95609286
106respiratory electron transport chain (GO:0022904)2.95547187
107tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.95204079
108RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.95204079
109prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060522.93446630
110regulation of stem cell maintenance (GO:2000036)2.93062292
111spindle assembly checkpoint (GO:0071173)2.91529109
112nucleotide transmembrane transport (GO:1901679)2.91225076
113negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.90965551
114negative regulation of T cell apoptotic process (GO:0070233)2.90090167
115cellular response to exogenous dsRNA (GO:0071360)2.89804457
116mesenchymal cell proliferation (GO:0010463)2.89553527
117GTP biosynthetic process (GO:0006183)2.89021506
118regulation of transforming growth factor beta2 production (GO:0032909)2.88538159
119DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla2.88347002
120response to interferon-beta (GO:0035456)2.87396417
121protein deneddylation (GO:0000338)2.86310436
122attachment of spindle microtubules to kinetochore (GO:0008608)2.86243821
123C-terminal protein amino acid modification (GO:0018410)2.83979365
124negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.83118106
125heart morphogenesis (GO:0003007)2.83052773
126spindle checkpoint (GO:0031577)2.82868282
127monoubiquitinated protein deubiquitination (GO:0035520)2.82288049
128mitotic spindle assembly checkpoint (GO:0007094)2.82056332
129negative regulation of chromosome segregation (GO:0051985)2.80320499
130mitotic nuclear envelope disassembly (GO:0007077)2.79221555
131negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.78679713
132negative regulation of sister chromatid segregation (GO:0033046)2.78679713
133negative regulation of mitotic sister chromatid separation (GO:2000816)2.78679713
134negative regulation of mitotic sister chromatid segregation (GO:0033048)2.78679713
135muscle cell migration (GO:0014812)2.77823033
136mitochondrial calcium ion transport (GO:0006851)2.76870527
137nucleoside transmembrane transport (GO:1901642)2.74875872
138regulation of defense response to virus by host (GO:0050691)2.74488048
139regulation of mitotic metaphase/anaphase transition (GO:0030071)2.74232305
140establishment of chromosome localization (GO:0051303)2.73315605
141bone trabecula formation (GO:0060346)2.73221216
142regulation of cilium movement (GO:0003352)2.72724469
143protein-cofactor linkage (GO:0018065)2.71994052
144lipopolysaccharide biosynthetic process (GO:0009103)2.71394081
145mesenchymal-epithelial cell signaling (GO:0060638)2.71314853
146organ formation (GO:0048645)2.70957763
147GPI anchor biosynthetic process (GO:0006506)2.70305311
148negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.69106143
149regulation of chromosome segregation (GO:0051983)2.68901791
150regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.68613276
151protein peptidyl-prolyl isomerization (GO:0000413)2.68381327
152protein localization to chromosome (GO:0034502)2.68152989
153negative regulation of glycoprotein metabolic process (GO:1903019)2.67795646
154CENP-A containing nucleosome assembly (GO:0034080)2.67500463
155positive regulation of defense response to virus by host (GO:0002230)2.67258818
156regulation of mitotic sister chromatid segregation (GO:0033047)2.67010653
157regulation of sister chromatid segregation (GO:0033045)2.67010653
158regulation of mitotic sister chromatid separation (GO:0010965)2.67010653
159GPI anchor metabolic process (GO:0006505)2.67004678
160regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.66935624
161mitotic spindle checkpoint (GO:0071174)2.65714443
162mitochondrial calcium ion homeostasis (GO:0051560)2.65349635
163corticosteroid receptor signaling pathway (GO:0031958)2.65034736
164positive regulation of mitotic sister chromatid separation (GO:1901970)2.64940702
165positive regulation of mitotic metaphase/anaphase transition (GO:0045842)2.64940702
166positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)2.64940702
167atrial septum morphogenesis (GO:0060413)2.64679039
168DNA replication-independent nucleosome assembly (GO:0006336)2.63238418
169DNA replication-independent nucleosome organization (GO:0034724)2.63238418
170positive regulation of mitochondrial calcium ion concentration (GO:0051561)2.62427419
171ubiquinone biosynthetic process (GO:0006744)2.62286777
172negative regulation of RNA splicing (GO:0033119)2.60860092
173DNA damage response, signal transduction resulting in transcription (GO:0042772)2.59683412
174regulation of DNA damage checkpoint (GO:2000001)2.59607348
175positive regulation of hormone biosynthetic process (GO:0046886)2.57821039
176chromosome segregation (GO:0007059)2.56629120
177nuclear envelope disassembly (GO:0051081)2.55211107
178membrane disassembly (GO:0030397)2.55211107
179regulation of mitotic spindle organization (GO:0060236)2.54338103
180chromatin remodeling at centromere (GO:0031055)2.54253580
181Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.51250752
182convergent extension (GO:0060026)2.50154367
183negative regulation of DNA repair (GO:0045738)2.49652977
184DNA topological change (GO:0006265)2.49468801
185negative regulation of mitosis (GO:0045839)2.48131552
186embryonic hemopoiesis (GO:0035162)2.48070863
187regulation of establishment of planar polarity (GO:0090175)2.47919364
188body morphogenesis (GO:0010171)2.47217780
189G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.46804122
190chromatin assembly or disassembly (GO:0006333)2.44532040
191definitive hemopoiesis (GO:0060216)2.43270982
192negative regulation of mRNA processing (GO:0050686)2.43261884
193negative regulation of cardiac muscle cell apoptotic process (GO:0010667)2.42987701
194regulation of cardioblast differentiation (GO:0051890)2.41999280
195regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.41987682

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human9.41898872
2FOXM1_23109430_ChIP-Seq_U2OS_Human6.94399211
3HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse6.17443550
4RBPJ_22232070_ChIP-Seq_NCS_Mouse5.38981028
5E2F4_17652178_ChIP-ChIP_JURKAT_Human4.36192017
6KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.30729579
7GABP_17652178_ChIP-ChIP_JURKAT_Human4.29051985
8JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.98296277
9FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.92027127
10NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.79063001
11TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.77602153
12TP63_19390658_ChIP-ChIP_HaCaT_Human3.67860759
13EST1_17652178_ChIP-ChIP_JURKAT_Human3.49278759
14SALL1_21062744_ChIP-ChIP_HESCs_Human3.22299887
15CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.17677796
16EGR1_19374776_ChIP-ChIP_THP-1_Human3.16123014
17AR_21909140_ChIP-Seq_LNCAP_Human3.00914048
18HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.99169115
19ETS1_20019798_ChIP-Seq_JURKAT_Human2.97490377
20SRF_21415370_ChIP-Seq_HL-1_Mouse2.96195229
21HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.92958455
22VDR_23849224_ChIP-Seq_CD4+_Human2.92301469
23KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.66818558
24CREB1_15753290_ChIP-ChIP_HEK293T_Human2.60048260
25CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.59800021
26ELF1_17652178_ChIP-ChIP_JURKAT_Human2.49336685
27HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse2.48575854
28PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.42629955
29E2F1_21310950_ChIP-Seq_MCF-7_Human2.40678662
30EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.36892907
31EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.31045027
32MYC_18555785_ChIP-Seq_MESCs_Mouse2.11948563
33CEBPB_24764292_ChIP-Seq_MC3T3_Mouse2.07865311
34YY1_21170310_ChIP-Seq_MESCs_Mouse2.05480187
35ATF3_23680149_ChIP-Seq_GBM1-GSC_Human2.03535250
36* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.02741993
37GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.01999394
38ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.00985821
39GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.98896048
40FOXP3_21729870_ChIP-Seq_TREG_Human1.98159836
41SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.93482621
42NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.92957295
43DCP1A_22483619_ChIP-Seq_HELA_Human1.89631038
44THAP11_20581084_ChIP-Seq_MESCs_Mouse1.89502027
45NOTCH1_21737748_ChIP-Seq_TLL_Human1.89304283
46MYC_22102868_ChIP-Seq_BL_Human1.87335097
47ELK1_19687146_ChIP-ChIP_HELA_Human1.83477534
48GABP_19822575_ChIP-Seq_HepG2_Human1.83474211
49MYC_18940864_ChIP-ChIP_HL60_Human1.73147397
50FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.72898894
51CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.70606809
52NANOG_21062744_ChIP-ChIP_HESCs_Human1.69785199
53* MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.69442652
54SCL_19346495_ChIP-Seq_HPC-7_Human1.68897268
55FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.68822090
56FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.62989061
57ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.61645664
58* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.61302049
59ISL1_27105846_Chip-Seq_CPCs_Mouse1.60129585
60EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.57946826
61CIITA_25753668_ChIP-Seq_RAJI_Human1.53243665
62VDR_22108803_ChIP-Seq_LS180_Human1.50207675
63FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.46299276
64POU5F1_16153702_ChIP-ChIP_HESCs_Human1.46040764
65DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.46039715
66YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.44811263
67RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.44492973
68BCL6_27268052_Chip-Seq_Bcells_Human1.44393141
69MYC_19079543_ChIP-ChIP_MESCs_Mouse1.40399828
70BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.39872338
71CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.37401696
72MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.36884949
73SOX2_18555785_ChIP-Seq_MESCs_Mouse1.36687157
74PADI4_21655091_ChIP-ChIP_MCF-7_Human1.36510435
75SOX2_16153702_ChIP-ChIP_HESCs_Human1.34267634
76EWS_26573619_Chip-Seq_HEK293_Human1.34252043
77ELK1_22589737_ChIP-Seq_MCF10A_Human1.32827784
78SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.29166603
79SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.28997746
80CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.28479318
81LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.27752186
82ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.27542896
83* MYC_19030024_ChIP-ChIP_MESCs_Mouse1.27001428
84TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.26601781
85* NELFA_20434984_ChIP-Seq_ESCs_Mouse1.25802045
86FUS_26573619_Chip-Seq_HEK293_Human1.25352427
87PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.25185048
88TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.24994725
89PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.24300913
90ZNF274_21170338_ChIP-Seq_K562_Hela1.24166262
91CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.24160097
92IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.23733162
93* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.22920008
94EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.20396520
95IRF1_19129219_ChIP-ChIP_H3396_Human1.17282319
96SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.16253649
97GATA1_19941826_ChIP-Seq_K562_Human1.16217692
98CTCF_20526341_ChIP-Seq_ESCs_Human1.16180941
99RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.15470421
100IRF8_22096565_ChIP-ChIP_GC-B_Human1.15186934
101CTCF_18555785_ChIP-Seq_MESCs_Mouse1.14755853
102DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.13532271
103TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.13529270
104CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.13291351
105STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.13247779
106* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.13226660
107SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.12651869
108HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.12589706
109ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.12188821
110HOXB4_20404135_ChIP-ChIP_EML_Mouse1.11407742
111* SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.11230898
112TBX3_20139965_ChIP-Seq_ESCs_Mouse1.10316779
113STAT4_19710469_ChIP-ChIP_TH1__Mouse1.09528301
114CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.09437627
115NANOG_20526341_ChIP-Seq_ESCs_Human1.08147266
116WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.07542553
117TBX3_20139965_ChIP-Seq_MESCs_Mouse1.07115506
118FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.06810971
119TP53_22573176_ChIP-Seq_HFKS_Human1.06618402
120GATA3_26560356_Chip-Seq_TH2_Human1.04895675
121ZFP281_27345836_Chip-Seq_ESCs_Mouse1.04162155
122AR_20517297_ChIP-Seq_VCAP_Human1.03342812
123CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.02856000
124BRD4_25478319_ChIP-Seq_HGPS_Human1.02757406
125XRN2_22483619_ChIP-Seq_HELA_Human1.01247262
126GATA4_21415370_ChIP-Seq_HL-1_Mouse1.00587247
127SPI1_20517297_ChIP-Seq_HL60_Human1.00517601
128STAT6_21828071_ChIP-Seq_BEAS2B_Human1.00510969
129MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.00298972
130SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.00110166
131ZFP281_18757296_ChIP-ChIP_E14_Mouse0.99965942
132CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.99563101
133RARG_19884340_ChIP-ChIP_MEFs_Mouse0.99416462
134NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.99335738
135NANOG_16153702_ChIP-ChIP_HESCs_Human0.99174855
136FOXH1_21741376_ChIP-Seq_EPCs_Human0.99151376
137STAT1_20625510_ChIP-Seq_HELA_Human0.98799388
138MYCN_18555785_ChIP-Seq_MESCs_Mouse0.98778571
139P300_27268052_Chip-Seq_Bcells_Human0.97758423
140EP300_21415370_ChIP-Seq_HL-1_Mouse0.97114517
141ERG_20517297_ChIP-Seq_VCAP_Human0.96184225
142BCOR_27268052_Chip-Seq_Bcells_Human0.95448584
143ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.95269053
144GATA3_21878914_ChIP-Seq_MCF-7_Human0.95092637
145GATA1_19941827_ChIP-Seq_MEL_Mouse0.94631789
146NANOG_18555785_ChIP-Seq_MESCs_Mouse0.94498413
147PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.94134629
148FOXA1_25329375_ChIP-Seq_VCAP_Human0.94058898
149FOXA1_27270436_Chip-Seq_PROSTATE_Human0.94058898
150RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.91804440
151PKCTHETA_26484144_Chip-Seq_BREAST_Human0.91785588
152SRY_22984422_ChIP-ChIP_TESTIS_Rat0.91575177
153MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.91464837
154TCF7_22412390_ChIP-Seq_EML_Mouse0.91303779
155GATA1_22025678_ChIP-Seq_K562_Human0.90407845
156ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.86492893
157NANOG_18347094_ChIP-ChIP_MESCs_Mouse0.86131087
158MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.86068475
159TCF3_18692474_ChIP-Seq_MESCs_Mouse0.83961782
160TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.83628035
161HIF1A_21447827_ChIP-Seq_MCF-7_Human0.83211701
162NFIB_24661679_ChIP-Seq_LUNG_Mouse0.82930053
163RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.81146737
164TTF2_22483619_ChIP-Seq_HELA_Human0.80995320
165POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.80505335
166KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.79422112
167* ZFX_18555785_ChIP-Seq_MESCs_Mouse0.78762658
168CHD1_26751641_Chip-Seq_LNCaP_Human0.78071187
169SALL4_18804426_ChIP-ChIP_XEN_Mouse0.77895258
170* MYC_18358816_ChIP-ChIP_MESCs_Mouse0.77294071
171TCF3_18692474_ChIP-Seq_MEFs_Mouse0.76917561
172TCF4_18268006_ChIP-ChIP_LS174T_Human0.76049571
173SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.74844577
174KDM5A_27292631_Chip-Seq_BREAST_Human0.73241872
175PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.72917705
176KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.72883573
177POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.72840038
178TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.71242597
179KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse0.70995986
180RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.70615321
181NCOR1_26117541_ChIP-Seq_K562_Human0.69367514
182E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.68750028
183PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.68638328

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003122_maternal_imprinting4.50514426
2MP0003123_paternal_imprinting4.49194767
3MP0003121_genomic_imprinting3.70492940
4MP0005257_abnormal_intraocular_pressure3.07494582
5MP0006072_abnormal_retinal_apoptosis2.97262799
6MP0002938_white_spotting2.75112113
7MP0005670_abnormal_white_adipose2.70461790
8MP0010030_abnormal_orbit_morphology2.61592900
9MP0002009_preneoplasia2.61554648
10MP0001542_abnormal_bone_strength2.50849255
11MP0009780_abnormal_chondrocyte_physiolo2.42111155
12MP0002837_dystrophic_cardiac_calcinosis2.41224464
13MP0000516_abnormal_urinary_system2.37229086
14MP0005367_renal/urinary_system_phenotyp2.37229086
15MP0000566_synostosis2.34983261
16MP0003111_abnormal_nucleus_morphology2.32385121
17MP0003787_abnormal_imprinting2.23717400
18MP0003567_abnormal_fetal_cardiomyocyte2.22836009
19MP0003941_abnormal_skin_development2.16273667
20MP0003385_abnormal_body_wall2.13015521
21MP0003724_increased_susceptibility_to2.11828191
22MP0002876_abnormal_thyroid_physiology2.07400557
23MP0003693_abnormal_embryo_hatching2.06865637
24MP0010094_abnormal_chromosome_stability2.04419881
25MP0006054_spinal_hemorrhage2.02430209
26MP0004272_abnormal_basement_membrane2.00784925
27MP0003077_abnormal_cell_cycle1.97966015
28MP0001293_anophthalmia1.95948821
29MP0005671_abnormal_response_to1.94680555
30MP0003786_premature_aging1.93918167
31MP0004147_increased_porphyrin_level1.92514638
32MP0000751_myopathy1.88090450
33MP0003436_decreased_susceptibility_to1.87395333
34MP0002166_altered_tumor_susceptibility1.85436578
35MP0003638_abnormal_response/metabolism_1.83566118
36MP0002653_abnormal_ependyma_morphology1.82866407
37MP0010368_abnormal_lymphatic_system1.78303967
38MP0003942_abnormal_urinary_system1.77671301
39MP0000465_gastrointestinal_hemorrhage1.76349954
40MP0004264_abnormal_extraembryonic_tissu1.74811114
41MP0004197_abnormal_fetal_growth/weight/1.71035161
42MP0009053_abnormal_anal_canal1.70775801
43MP0002249_abnormal_larynx_morphology1.70325663
44MP0002006_tumorigenesis1.70281074
45MP0001346_abnormal_lacrimal_gland1.67904401
46MP0000749_muscle_degeneration1.65149786
47MP0004957_abnormal_blastocyst_morpholog1.64169304
48MP0003195_calcinosis1.63331421
49MP0003935_abnormal_craniofacial_develop1.58771088
50MP0008007_abnormal_cellular_replicative1.58495218
51MP0005503_abnormal_tendon_morphology1.55666257
52MP0005165_increased_susceptibility_to1.54169158
53MP0000428_abnormal_craniofacial_morphol1.53414404
54MP0001853_heart_inflammation1.52265458
55MP0000750_abnormal_muscle_regeneration1.52239446
56MP0003937_abnormal_limbs/digits/tail_de1.51571728
57MP0002332_abnormal_exercise_endurance1.51564149
58MP0000537_abnormal_urethra_morphology1.50966145
59MP0002234_abnormal_pharynx_morphology1.50623623
60MP0009250_abnormal_appendicular_skeleto1.49367336
61* MP0003115_abnormal_respiratory_system1.48404450
62MP0003191_abnormal_cellular_cholesterol1.46692884
63MP0003315_abnormal_perineum_morphology1.46207248
64MP0008057_abnormal_DNA_replication1.43801752
65MP0005646_abnormal_pituitary_gland1.42877393
66MP0003705_abnormal_hypodermis_morpholog1.42797646
67MP0003806_abnormal_nucleotide_metabolis1.41650795
68MP0005187_abnormal_penis_morphology1.41171416
69MP0003950_abnormal_plasma_membrane1.39698269
70MP0002933_joint_inflammation1.38845369
71MP0004510_myositis1.38805645
72MP0002085_abnormal_embryonic_tissue1.38757303
73MP0002396_abnormal_hematopoietic_system1.38323521
74MP0005380_embryogenesis_phenotype1.36426483
75MP0001672_abnormal_embryogenesis/_devel1.36426483
76MP0002086_abnormal_extraembryonic_tissu1.36020919
77MP0001243_abnormal_dermal_layer1.35252667
78MP0003119_abnormal_digestive_system1.35191595
79MP0008877_abnormal_DNA_methylation1.34813934
80MP0002932_abnormal_joint_morphology1.34459918
81MP0002088_abnormal_embryonic_growth/wei1.34121779
82MP0003984_embryonic_growth_retardation1.33733103
83MP0009672_abnormal_birth_weight1.33711927
84MP0009703_decreased_birth_body1.33529932
85MP0001533_abnormal_skeleton_physiology1.33075817
86MP0005360_urolithiasis1.31708058
87MP0002282_abnormal_trachea_morphology1.31268874
88MP0000049_abnormal_middle_ear1.31009655
89MP0001697_abnormal_embryo_size1.28976031
90MP0008058_abnormal_DNA_repair1.27200579
91MP0006036_abnormal_mitochondrial_physio1.26464895
92MP0008875_abnormal_xenobiotic_pharmacok1.26267838
93MP0002084_abnormal_developmental_patter1.26039337
94MP0009764_decreased_sensitivity_to1.25475897
95MP0004084_abnormal_cardiac_muscle1.25048966
96MP0000685_abnormal_immune_system1.23964964
97MP0000350_abnormal_cell_proliferation1.23585848
98MP0003763_abnormal_thymus_physiology1.22034184
99MP0002925_abnormal_cardiovascular_devel1.21202205
100MP0002127_abnormal_cardiovascular_syste1.20533037
101MP0005253_abnormal_eye_physiology1.20018581
102MP0005076_abnormal_cell_differentiation1.18991900
103MP0003656_abnormal_erythrocyte_physiolo1.17046367
104MP0009384_cardiac_valve_regurgitation1.16710692
105MP0006276_abnormal_autonomic_nervous1.16437415
106MP0000534_abnormal_ureter_morphology1.13383998
107MP0008789_abnormal_olfactory_epithelium1.12774903
108MP0004145_abnormal_muscle_electrophysio1.12334195
109MP0001730_embryonic_growth_arrest1.10845812
110MP0002109_abnormal_limb_morphology1.10305071
111MP0005551_abnormal_eye_electrophysiolog1.09982412
112MP0004808_abnormal_hematopoietic_stem1.09510298
113MP0003755_abnormal_palate_morphology1.09426968
114MP0002116_abnormal_craniofacial_bone1.08822035
115MP0005248_abnormal_Harderian_gland1.08415995
116* MP0000266_abnormal_heart_morphology1.07592960
117MP0000733_abnormal_muscle_development1.07474451
118MP0003828_pulmonary_edema1.06192348
119MP0003646_muscle_fatigue1.06077562
120MP0000613_abnormal_salivary_gland1.05599875
121MP0001286_abnormal_eye_development1.05532884
122MP0000432_abnormal_head_morphology1.04866532
123MP0003011_delayed_dark_adaptation1.04793467
124MP0004885_abnormal_endolymph1.04732199
125MP0004742_abnormal_vestibular_system1.04707337
126MP0005330_cardiomyopathy1.04372395
127MP0004233_abnormal_muscle_weight1.03529758
128MP0002102_abnormal_ear_morphology1.03103536
129MP0001545_abnormal_hematopoietic_system1.02121677
130MP0005397_hematopoietic_system_phenotyp1.02121677
131MP0001905_abnormal_dopamine_level1.01620419
132MP0005000_abnormal_immune_tolerance1.01383913
133MP0001915_intracranial_hemorrhage1.00322230
134* MP0010630_abnormal_cardiac_muscle0.99778715
135MP0000767_abnormal_smooth_muscle0.99551815
136MP0006292_abnormal_olfactory_placode0.97834157
137MP0004215_abnormal_myocardial_fiber0.97575318
138MP0001968_abnormal_touch/_nociception0.97069037
139MP0006138_congestive_heart_failure0.96745976
140MP0002177_abnormal_outer_ear0.96295651
141MP0002080_prenatal_lethality0.96258688
142MP0008932_abnormal_embryonic_tissue0.95598887
143MP0003943_abnormal_hepatobiliary_system0.95574402
144* MP0001175_abnormal_lung_morphology0.95165181
145MP0001299_abnormal_eye_distance/0.94659726
146MP0001764_abnormal_homeostasis0.93679550
147MP0002736_abnormal_nociception_after0.93152860
148MP0005084_abnormal_gallbladder_morpholo0.92839299
149MP0009697_abnormal_copulation0.92126838
150MP0002111_abnormal_tail_morphology0.89530459
151MP0002697_abnormal_eye_size0.88774911
152MP0002723_abnormal_immune_serum0.88335789
153MP0002114_abnormal_axial_skeleton0.87907162
154MP0001919_abnormal_reproductive_system0.87604789
155MP0009278_abnormal_bone_marrow0.87459841
156MP0005508_abnormal_skeleton_morphology0.87275154
157MP0005390_skeleton_phenotype0.86574844
158* MP0008775_abnormal_heart_ventricle0.86105022
159MP0001879_abnormal_lymphatic_vessel0.86043087
160MP0009333_abnormal_splenocyte_physiolog0.83865467
161MP0003890_abnormal_embryonic-extraembry0.83855291
162MP0003878_abnormal_ear_physiology0.83824387
163MP0005377_hearing/vestibular/ear_phenot0.83824387
164MP0002233_abnormal_nose_morphology0.82822990
165MP0002092_abnormal_eye_morphology0.81442951
166MP0002277_abnormal_respiratory_mucosa0.81300997
167MP0005389_reproductive_system_phenotype0.81250177
168MP0008872_abnormal_physiological_respon0.80458543
169MP0003279_aneurysm0.80230914
170MP0003938_abnormal_ear_development0.78086799
171MP0005083_abnormal_biliary_tract0.77614468
172MP0000762_abnormal_tongue_morphology0.75752244
173MP0009745_abnormal_behavioral_response0.75415291
174MP0009046_muscle_twitch0.74651746
175MP0005197_abnormal_uvea_morphology0.72162532
176MP0000343_altered_response_to0.70178726
177MP0004133_heterotaxia0.70140062
178MP0002452_abnormal_antigen_presenting0.69755637
179MP0000647_abnormal_sebaceous_gland0.68996355
180MP0001819_abnormal_immune_cell0.68615376
181MP0003718_maternal_effect0.67439616
182MP0002148_abnormal_hypersensitivity_rea0.66981139

Predicted human phenotypes

RankGene SetZ-score
1Short 4th metacarpal (HP:0010044)5.68757748
2Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)5.68757748
3Midline defect of the nose (HP:0004122)4.25073260
4Delayed CNS myelination (HP:0002188)4.14354639
5Abnormality of the 4th metacarpal (HP:0010012)4.10989064
6Adrenal hypoplasia (HP:0000835)4.01550252
7Congenital, generalized hypertrichosis (HP:0004540)3.87335370
8Abnormality of alanine metabolism (HP:0010916)3.76233247
9Hyperalaninemia (HP:0003348)3.76233247
10Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.76233247
11Trigonocephaly (HP:0000243)3.59991152
12Abnormality of the heme biosynthetic pathway (HP:0010472)3.59465387
13Hepatocellular necrosis (HP:0001404)3.41720027
14Mitochondrial inheritance (HP:0001427)3.40729323
15Hepatoblastoma (HP:0002884)3.24007905
16Amyloidosis (HP:0011034)3.22323649
17Acute necrotizing encephalopathy (HP:0006965)3.15857217
18IgG deficiency (HP:0004315)3.12417205
19Abnormality of the parietal bone (HP:0002696)3.11547509
20Abnormal mitochondria in muscle tissue (HP:0008316)3.10914323
21Renal duplication (HP:0000075)3.10850836
22Flat capital femoral epiphysis (HP:0003370)3.10600041
23Short tibia (HP:0005736)3.09963302
24Hepatic necrosis (HP:0002605)3.04779163
25Increased CSF lactate (HP:0002490)3.00837038
26Broad palm (HP:0001169)2.99504940
27Severe muscular hypotonia (HP:0006829)2.97115249
28Asymmetry of the thorax (HP:0001555)2.91536482
29Shallow orbits (HP:0000586)2.84253019
30Aplasia/Hypoplasia of the tibia (HP:0005772)2.83554050
31Diastasis recti (HP:0001540)2.81744384
32Impulsivity (HP:0100710)2.81635890
33Short middle phalanx of the 5th finger (HP:0004220)2.79375315
34Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.79304828
35Abnormal protein N-linked glycosylation (HP:0012347)2.79304828
36Abnormal protein glycosylation (HP:0012346)2.79304828
37Abnormal glycosylation (HP:0012345)2.79304828
38Sclerocornea (HP:0000647)2.77728338
39Medulloblastoma (HP:0002885)2.77226619
40Microretrognathia (HP:0000308)2.75465206
41Nephroblastoma (Wilms tumor) (HP:0002667)2.74086587
42Supernumerary ribs (HP:0005815)2.73822764
43Hypoplasia of the uterus (HP:0000013)2.72445340
44Type I transferrin isoform profile (HP:0003642)2.72033513
45Abnormality of the proximal phalanges of the hand (HP:0009834)2.70740675
46Renal cortical cysts (HP:0000803)2.64677734
47Embryonal renal neoplasm (HP:0011794)2.63572828
48Retinal dysplasia (HP:0007973)2.59263354
49Supernumerary bones of the axial skeleton (HP:0009144)2.58989956
50Increased serum lactate (HP:0002151)2.58396944
51Increased nuchal translucency (HP:0010880)2.55816827
52Abnormal number of incisors (HP:0011064)2.53968053
53Aplasia/hypoplasia of the uterus (HP:0008684)2.53388932
54Broad metatarsal (HP:0001783)2.53053304
55Reduced subcutaneous adipose tissue (HP:0003758)2.52299100
56Acute encephalopathy (HP:0006846)2.49423432
57Progressive macrocephaly (HP:0004481)2.49386176
58Long eyelashes (HP:0000527)2.49292603
59Broad toe (HP:0001837)2.48841614
60Abnormality of the distal phalanx of the thumb (HP:0009617)2.47019019
61Abnormality of the fingertips (HP:0001211)2.45558783
62Subaortic stenosis (HP:0001682)2.44875661
63Abnormality of the left ventricular outflow tract (HP:0011103)2.44875661
64Volvulus (HP:0002580)2.44398756
65Opisthotonus (HP:0002179)2.43767061
66Elevated erythrocyte sedimentation rate (HP:0003565)2.43022608
67Pancreatic cysts (HP:0001737)2.40283441
68Glucose intolerance (HP:0000833)2.34397467
69Skull defect (HP:0001362)2.33585073
70Short 5th finger (HP:0009237)2.31289855
71Lactic acidosis (HP:0003128)2.30885114
72Broad thumb (HP:0011304)2.28808032
73Postaxial foot polydactyly (HP:0001830)2.28086684
74Aplasia/Hypoplasia of the tongue (HP:0010295)2.27965838
75Absent speech (HP:0001344)2.27847758
76Aplasia/Hypoplasia of the sacrum (HP:0008517)2.27152404
77Pancreatic fibrosis (HP:0100732)2.25502642
78Increased intramyocellular lipid droplets (HP:0012240)2.24979765
79Cutaneous finger syndactyly (HP:0010554)2.21396629
80Lipid accumulation in hepatocytes (HP:0006561)2.21317691
81Reduced antithrombin III activity (HP:0001976)2.21263610
82Humeroradial synostosis (HP:0003041)2.18849256
83Synostosis involving the elbow (HP:0003938)2.18849256
84Abnormality of the renal cortex (HP:0011035)2.17393492
85Increased hepatocellular lipid droplets (HP:0006565)2.16688521
86Cutaneous syndactyly (HP:0012725)2.15401678
87Abnormal lung lobation (HP:0002101)2.14090485
88Broad phalanges of the hand (HP:0009768)2.13287706
89Aplasia/Hypoplasia of the 5th finger (HP:0006262)2.11981389
90Selective tooth agenesis (HP:0001592)2.11711491
91Facial hemangioma (HP:0000329)2.10933288
92Abnormality of the diencephalon (HP:0010662)2.10545441
93Bifid uvula (HP:0000193)2.10152207
94Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.10049092
95Decreased activity of mitochondrial respiratory chain (HP:0008972)2.10049092
96Prolonged neonatal jaundice (HP:0006579)2.09048528
97Exercise intolerance (HP:0003546)2.08160030
98Atresia of the external auditory canal (HP:0000413)2.07264277
99Increased muscle lipid content (HP:0009058)2.06535804
100Aplasia/Hypoplasia of the sternum (HP:0006714)2.06271910
101Neoplasm of the heart (HP:0100544)2.04430273
102Renal Fanconi syndrome (HP:0001994)2.04218908
103Abnormality of the phalanges of the hallux (HP:0010057)2.03987800
104Bifid tongue (HP:0010297)2.03249589
105Combined immunodeficiency (HP:0005387)2.03137931
106Abnormality of the lacrimal duct (HP:0011481)2.02537541
107True hermaphroditism (HP:0010459)2.01867937
108Broad finger (HP:0001500)2.01834307
109Nephronophthisis (HP:0000090)2.01582105
110Deep philtrum (HP:0002002)1.99311750
1113-Methylglutaconic aciduria (HP:0003535)1.97892152
112Type II lissencephaly (HP:0007260)1.97512654
113Abnormality of the labia minora (HP:0012880)1.96711974
114Methylmalonic aciduria (HP:0012120)1.96352272
115Narrow palate (HP:0000189)1.96140874
116Ankle contracture (HP:0006466)1.96130118
117Renovascular hypertension (HP:0100817)1.95814269
118Bilateral microphthalmos (HP:0007633)1.95808139
119Down-sloping shoulders (HP:0200021)1.95083841
120Decreased electroretinogram (ERG) amplitude (HP:0000654)1.94656647
121Palpitations (HP:0001962)1.94655004
122Broad hallux (HP:0010055)1.93977187
123Brittle hair (HP:0002299)1.93833120
124Neoplasm of the oral cavity (HP:0100649)1.93316125
125Enlarged penis (HP:0000040)1.93213159
126Abnormality of the nasolacrimal system (HP:0000614)1.93105826
127Abnormality of the phalanges of the 5th finger (HP:0004213)1.91953404
128Symphalangism affecting the phalanges of the hand (HP:0009773)1.91125026
129Type 1 muscle fiber predominance (HP:0003803)1.90871560
130Abnormality of the incisor (HP:0000676)1.90520830
131Progressive microcephaly (HP:0000253)1.90475944
132Abnormality of glycolipid metabolism (HP:0010969)1.90003906
133Abnormality of liposaccharide metabolism (HP:0010968)1.90003906
134Abnormality of glycosphingolipid metabolism (HP:0004343)1.90003906
135Hypochromic microcytic anemia (HP:0004840)1.89506676
136Broad phalanx (HP:0006009)1.89460120
137Abnormality of the sella turcica (HP:0002679)1.88851663
138Respiratory failure (HP:0002878)1.88581451
139Abnormality of midbrain morphology (HP:0002418)1.88492068
140Molar tooth sign on MRI (HP:0002419)1.88492068
141Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)1.88096729
142Short 1st metacarpal (HP:0010034)1.87207631
143Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)1.87207631
144Mesomelia (HP:0003027)1.86814811
145Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.86515675
146Pancytopenia (HP:0001876)1.86386804
147Poikilocytosis (HP:0004447)1.85914353
148Increased number of teeth (HP:0011069)1.85339166
149Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.84918237
150Large for gestational age (HP:0001520)1.84757961
151Hypoplastic labia majora (HP:0000059)1.83425317
152Broad long bones (HP:0005622)1.82980568
153Supernumerary spleens (HP:0009799)1.82703199
154Severe combined immunodeficiency (HP:0004430)1.82287650
155Prostate neoplasm (HP:0100787)1.81744245
156Abnormality of the distal phalanges of the toes (HP:0010182)1.81404000
157Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)1.81375113
158Protrusio acetabuli (HP:0003179)1.80455057
159Insulin resistance (HP:0000855)1.80267863
160Absent eyebrow (HP:0002223)1.80163518
161Sparse eyelashes (HP:0000653)1.80036966
162Medial flaring of the eyebrow (HP:0010747)1.79247646
163Shawl scrotum (HP:0000049)1.79229013
164Conical tooth (HP:0000698)1.79114698
165Entropion (HP:0000621)1.78233798
166Anophthalmia (HP:0000528)1.78136261
167Colon cancer (HP:0003003)1.78059368
168Patellar aplasia (HP:0006443)1.77878771
169Skin tags (HP:0010609)1.76767195
170Abnormality of the pubic bones (HP:0003172)1.76268393
171Cerebral edema (HP:0002181)1.75396944
172Hyperacusis (HP:0010780)1.74835459
173Elfin facies (HP:0004428)1.74649791
174Abnormality of the middle phalanges of the toes (HP:0010183)1.73273527
175Vitreoretinal degeneration (HP:0000655)1.73176786
176Hypoplasia of the maxilla (HP:0000327)1.72386657
177Exostoses (HP:0100777)1.72094063
178Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)1.70935308
179Morphological abnormality of the middle ear (HP:0008609)1.69491939
180Microglossia (HP:0000171)1.69465620
181Embryonal neoplasm (HP:0002898)1.69027816
182Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)1.68819855
183Neoplasm of striated muscle (HP:0009728)1.68665276
184Aplasia/Hypoplasia of the patella (HP:0006498)1.68520256
185Short phalanx of the thumb (HP:0009660)1.67878298
186Meckel diverticulum (HP:0002245)1.67619879
187Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.67597324
188Omphalocele (HP:0001539)1.66967461
189Myelomeningocele (HP:0002475)1.66540437
190Insomnia (HP:0100785)1.66503100
191Abnormality of the labia majora (HP:0012881)1.66469673
192Renal hypoplasia (HP:0000089)1.64046117
193Proximal placement of thumb (HP:0009623)1.63235429
194Ectopic kidney (HP:0000086)1.63135872
195Hypospadias (HP:0000047)1.63004318
196Anteriorly placed anus (HP:0001545)1.62317929

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TESK25.38099225
2LIMK14.04076138
3TESK13.95749452
4LATS13.92552187
5VRK23.89853610
6PKN23.61356701
7CDC73.27873481
8NME23.05961849
9CDK123.02704950
10MAP4K22.84085485
11TAOK32.74029691
12TLK12.64087160
13NEK22.61023012
14MAPKAPK32.19077398
15KDR2.16298438
16MAP3K62.12772442
17STK32.08647896
18MKNK12.04841955
19TTK2.04001589
20BCKDK2.02932098
21EEF2K1.98773583
22DAPK11.95051369
23TRIB31.87027702
24FLT31.84990905
25EPHA21.84310497
26MKNK21.75022762
27MAP3K101.71036349
28TXK1.65875050
29BRD41.62867261
30CDK81.60250904
31LATS21.57835932
32DMPK1.56388013
33PTK2B1.56209587
34NEK11.54840122
35PDK21.52875279
36CHEK21.46677858
37RPS6KB21.46402540
38CSNK1G31.45433049
39STK161.44722678
40PHKG21.43678596
41PHKG11.43678596
42TAOK21.43080263
43SIK11.41119528
44STK241.40781687
45MAP2K71.39798047
46CDK71.37266305
47PIM21.37200972
48STK41.35187338
49ATR1.33381751
50MST41.32562978
51BRSK21.31799842
52CSNK1A1L1.31664573
53TIE11.31310430
54NUAK11.31269103
55CDK41.30049631
56TGFBR11.29051529
57WEE11.28844294
58PLK11.28638945
59FGFR11.26777551
60STK38L1.24851221
61GRK61.24665499
62SRPK11.21733890
63MAP2K21.21677109
64PDGFRA1.19001843
65MELK1.17726175
66PASK1.16335924
67DYRK31.15751848
68MUSK1.15451316
69CSNK1G21.14810420
70ADRBK21.12617403
71AURKB1.12610313
72PLK41.10828438
73PLK31.09671936
74CAMKK21.09097260
75RPS6KA41.08319635
76TAOK11.08250068
77GRK11.05085318
78CSNK1G11.03555353
79BRSK11.02558850
80CHEK11.01878513
81MAP3K81.01760451
82SGK31.01412341
83CDK61.00579568
84ATM0.99150211
85BUB10.97703228
86SCYL20.97205399
87CAMK1D0.96629144
88EPHB20.96105185
89PAK40.92614898
90SGK20.92310441
91LMTK20.91376522
92CDK90.90667067
93TBK10.90137881
94MTOR0.89753568
95DDR20.89599976
96STK100.87594917
97EPHA30.85945830
98MYLK0.85732648
99PRKD30.83629494
100IKBKE0.82759057
101CAMK1G0.81293390
102ILK0.79880914
103DAPK20.79566939
104ABL20.78601698
105TNIK0.77933888
106ERBB20.76819363
107GRK70.75683077
108IKBKB0.74064397
109RIPK10.72398948
110CDK190.72069747
111CDK20.69405432
112NEK90.68688412
113CDC42BPA0.67247736
114PTK60.66526614
115GRK50.65737932
116CDK10.65189991
117MAPK110.64818479
118ADRBK10.64494009
119FRK0.61610371
120AKT20.59315705
121AURKA0.58713242
122AKT10.58487702
123EIF2AK10.57934708
124MAP3K120.57422371
125BMPR1B0.56582193
126CAMK40.56433119
127MAP3K140.55454327
128KSR10.55379813
129ZAK0.50387382
130INSRR0.49928615
131PRKAA20.49763568
132ARAF0.49704752
133ACVR1B0.49590782
134PDGFRB0.49527606
135EPHA40.48957084
136MAPK140.48726684
137MOS0.48168497
138TGFBR20.46292401
139MAPK130.45828075
140FGFR20.44425673
141MAPK10.44356125
142FES0.43976885
143CCNB10.43331977
144PAK20.42702573
145EIF2AK20.42268691
146MAP3K70.42226764
147PINK10.41937003
148ERBB30.41387629
149CLK10.40659116
150PRKDC0.40417082
151PIM10.40387987
152MAP2K30.40057906
153VRK10.38448158
154MAP3K110.38164444
155OBSCN0.37906725
156MST1R0.36286465
157CSNK1A10.34588793
158RPS6KA50.34009345
159NME10.33880088
160OXSR10.33865503
161CDK140.33683594
162WNK30.33342885
163KIT0.32219478
164MAPKAPK20.30511091
165PAK10.29290107
166ERN10.29241065
167ABL10.28681003
168CDK11A0.28451344
169CDK180.28037300
170CSNK2A10.27801773
171CDK150.27745531
172IGF1R0.27220885
173TRIM280.25583656
174JAK10.24033687

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001903.56209098
2Cell cycle_Homo sapiens_hsa041103.52531432
3Proteasome_Homo sapiens_hsa030503.45881067
4Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005633.06756707
5DNA replication_Homo sapiens_hsa030303.00001466
6Parkinsons disease_Homo sapiens_hsa050122.95983002
7RNA polymerase_Homo sapiens_hsa030202.76487359
8Basal cell carcinoma_Homo sapiens_hsa052172.60854340
9Sulfur relay system_Homo sapiens_hsa041222.60261776
10Fatty acid elongation_Homo sapiens_hsa000622.58431323
11Mismatch repair_Homo sapiens_hsa034302.50587593
12Alzheimers disease_Homo sapiens_hsa050102.15230124
13Hedgehog signaling pathway_Homo sapiens_hsa043402.12127285
14Huntingtons disease_Homo sapiens_hsa050162.11301037
15Spliceosome_Homo sapiens_hsa030402.04731401
16RNA transport_Homo sapiens_hsa030132.00224088
17Adherens junction_Homo sapiens_hsa045201.99430453
18mRNA surveillance pathway_Homo sapiens_hsa030151.98408150
19Base excision repair_Homo sapiens_hsa034101.98004631
20RNA degradation_Homo sapiens_hsa030181.94942664
21Primary bile acid biosynthesis_Homo sapiens_hsa001201.87922061
22Hippo signaling pathway_Homo sapiens_hsa043901.87294047
23Fanconi anemia pathway_Homo sapiens_hsa034601.86353064
24Homologous recombination_Homo sapiens_hsa034401.83505492
25Folate biosynthesis_Homo sapiens_hsa007901.79540204
26Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.78408534
27Cardiac muscle contraction_Homo sapiens_hsa042601.73590341
28Lysine degradation_Homo sapiens_hsa003101.70657690
29Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.70172818
30MicroRNAs in cancer_Homo sapiens_hsa052061.66349789
31Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.66328011
32Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.64651856
33Protein export_Homo sapiens_hsa030601.62618901
34Small cell lung cancer_Homo sapiens_hsa052221.59390849
35Notch signaling pathway_Homo sapiens_hsa043301.59003728
36TGF-beta signaling pathway_Homo sapiens_hsa043501.57735237
37Salivary secretion_Homo sapiens_hsa049701.57659053
38Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.54630702
39Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.51765644
40Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.47024058
41ECM-receptor interaction_Homo sapiens_hsa045121.46726957
42Oocyte meiosis_Homo sapiens_hsa041141.45625836
43Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.45064757
44Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.43907886
45Non-homologous end-joining_Homo sapiens_hsa034501.43399460
46Primary immunodeficiency_Homo sapiens_hsa053401.43378718
47Chronic myeloid leukemia_Homo sapiens_hsa052201.39388550
48Nucleotide excision repair_Homo sapiens_hsa034201.36042722
49Purine metabolism_Homo sapiens_hsa002301.35472233
50One carbon pool by folate_Homo sapiens_hsa006701.33442616
51Wnt signaling pathway_Homo sapiens_hsa043101.33278404
52Basal transcription factors_Homo sapiens_hsa030221.30354795
53Cyanoamino acid metabolism_Homo sapiens_hsa004601.29021471
54Sulfur metabolism_Homo sapiens_hsa009201.28928349
55p53 signaling pathway_Homo sapiens_hsa041151.27468563
56Colorectal cancer_Homo sapiens_hsa052101.26583757
57Focal adhesion_Homo sapiens_hsa045101.26111629
58HTLV-I infection_Homo sapiens_hsa051661.25154756
59Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.24733575
60Dilated cardiomyopathy_Homo sapiens_hsa054141.24495933
61Proteoglycans in cancer_Homo sapiens_hsa052051.23287626
62Thyroid hormone signaling pathway_Homo sapiens_hsa049191.21923653
63Transcriptional misregulation in cancer_Homo sapiens_hsa052021.21343216
64Pathways in cancer_Homo sapiens_hsa052001.19836484
65Protein digestion and absorption_Homo sapiens_hsa049741.19368641
66Viral myocarditis_Homo sapiens_hsa054161.18834885
67Prostate cancer_Homo sapiens_hsa052151.18117110
68Thyroid cancer_Homo sapiens_hsa052161.13706858
69Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.10634818
70Herpes simplex infection_Homo sapiens_hsa051681.10123980
71Pancreatic cancer_Homo sapiens_hsa052121.09530823
72Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.08658907
73Endometrial cancer_Homo sapiens_hsa052131.08196272
74Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.07260601
75Melanoma_Homo sapiens_hsa052181.06840930
76Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.00885213
77Cysteine and methionine metabolism_Homo sapiens_hsa002700.98315056
78Glutathione metabolism_Homo sapiens_hsa004800.97749901
79SNARE interactions in vesicular transport_Homo sapiens_hsa041300.97653093
80Pyruvate metabolism_Homo sapiens_hsa006200.94012474
81Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.93502528
82N-Glycan biosynthesis_Homo sapiens_hsa005100.92232854
83Tight junction_Homo sapiens_hsa045300.91780229
84Intestinal immune network for IgA production_Homo sapiens_hsa046720.90323777
85Arachidonic acid metabolism_Homo sapiens_hsa005900.88459167
86mTOR signaling pathway_Homo sapiens_hsa041500.87858145
87PI3K-Akt signaling pathway_Homo sapiens_hsa041510.87401300
88Non-small cell lung cancer_Homo sapiens_hsa052230.85868415
89Viral carcinogenesis_Homo sapiens_hsa052030.84892414
90Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.84420877
91Metabolic pathways_Homo sapiens_hsa011000.82421925
92Longevity regulating pathway - mammal_Homo sapiens_hsa042110.81928773
93Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.81576675
94Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.80858349
95Bladder cancer_Homo sapiens_hsa052190.80586128
96Vitamin B6 metabolism_Homo sapiens_hsa007500.80378397
97Rap1 signaling pathway_Homo sapiens_hsa040150.78265230
98Platelet activation_Homo sapiens_hsa046110.77839321
99Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.77835596
100Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.77796431
101Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.77615041
102AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.77416266
103Central carbon metabolism in cancer_Homo sapiens_hsa052300.77331933
104Hepatitis B_Homo sapiens_hsa051610.76925167
105Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.76612501
106Systemic lupus erythematosus_Homo sapiens_hsa053220.76598727
107cGMP-PKG signaling pathway_Homo sapiens_hsa040220.76153653
108Melanogenesis_Homo sapiens_hsa049160.75739091
109Phototransduction_Homo sapiens_hsa047440.75275152
110Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.74360131
111Circadian rhythm_Homo sapiens_hsa047100.73121053
112Tryptophan metabolism_Homo sapiens_hsa003800.72692108
113Galactose metabolism_Homo sapiens_hsa000520.71311429
114Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.70266886
115Ovarian steroidogenesis_Homo sapiens_hsa049130.69750186
116Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.69743445
117Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.69345645
118FoxO signaling pathway_Homo sapiens_hsa040680.69151519
119Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.69001182
120AMPK signaling pathway_Homo sapiens_hsa041520.67545952
121Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.67180075
122Glioma_Homo sapiens_hsa052140.67103726
123Chemical carcinogenesis_Homo sapiens_hsa052040.66239297
124Linoleic acid metabolism_Homo sapiens_hsa005910.65800803
125Regulation of autophagy_Homo sapiens_hsa041400.65061973
126HIF-1 signaling pathway_Homo sapiens_hsa040660.64116296
127Drug metabolism - other enzymes_Homo sapiens_hsa009830.63787381
128Peroxisome_Homo sapiens_hsa041460.63263042
129NF-kappa B signaling pathway_Homo sapiens_hsa040640.62854072
130Nitrogen metabolism_Homo sapiens_hsa009100.62852783
131Regulation of actin cytoskeleton_Homo sapiens_hsa048100.61702220
132Ribosome_Homo sapiens_hsa030100.60940244
133Phenylalanine metabolism_Homo sapiens_hsa003600.57719034
134Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.57376482
135Steroid hormone biosynthesis_Homo sapiens_hsa001400.57261044
136RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.56697393
137Pyrimidine metabolism_Homo sapiens_hsa002400.55354621
138Leukocyte transendothelial migration_Homo sapiens_hsa046700.54985654
139Glycosaminoglycan degradation_Homo sapiens_hsa005310.54033265
140Insulin resistance_Homo sapiens_hsa049310.53866671
141Propanoate metabolism_Homo sapiens_hsa006400.53526088
142Alcoholism_Homo sapiens_hsa050340.52991243
143Dorso-ventral axis formation_Homo sapiens_hsa043200.52926162
144Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.52488696
145Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.51669651
146Caffeine metabolism_Homo sapiens_hsa002320.51529002
147Epstein-Barr virus infection_Homo sapiens_hsa051690.50907760
148Renal cell carcinoma_Homo sapiens_hsa052110.50853744
149Neurotrophin signaling pathway_Homo sapiens_hsa047220.50804582
150Axon guidance_Homo sapiens_hsa043600.45512230
151Biosynthesis of amino acids_Homo sapiens_hsa012300.45359463
1522-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.44704213
153Antigen processing and presentation_Homo sapiens_hsa046120.44531276
154Acute myeloid leukemia_Homo sapiens_hsa052210.44362612
155Toxoplasmosis_Homo sapiens_hsa051450.44181645
156Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.44180775
157Collecting duct acid secretion_Homo sapiens_hsa049660.43411163
158Insulin signaling pathway_Homo sapiens_hsa049100.43306193
159Glucagon signaling pathway_Homo sapiens_hsa049220.43283929
160cAMP signaling pathway_Homo sapiens_hsa040240.42410534
161Tyrosine metabolism_Homo sapiens_hsa003500.40939744
162Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.40064785
163Fat digestion and absorption_Homo sapiens_hsa049750.40058054
164Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.39586636
165MAPK signaling pathway_Homo sapiens_hsa040100.39380779
166Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.38665221
167Jak-STAT signaling pathway_Homo sapiens_hsa046300.37846641
168Amoebiasis_Homo sapiens_hsa051460.37247840
169Rheumatoid arthritis_Homo sapiens_hsa053230.37151706
170Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.36658629
171Vibrio cholerae infection_Homo sapiens_hsa051100.33690834
172Graft-versus-host disease_Homo sapiens_hsa053320.32436027
173Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.31724571
174Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.30445193
175Ether lipid metabolism_Homo sapiens_hsa005650.29539816
176Allograft rejection_Homo sapiens_hsa053300.29315474
177Autoimmune thyroid disease_Homo sapiens_hsa053200.28727557
178Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.26663995
179Asthma_Homo sapiens_hsa053100.26569645
180Glycerolipid metabolism_Homo sapiens_hsa005610.24915833

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