PAX8

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





Description: This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* thyroid gland development (GO:0030878)8.33583193
2sulfate transmembrane transport (GO:1902358)7.24839224
3ribosomal small subunit assembly (GO:0000028)6.53258628
4viral transcription (GO:0019083)6.07282020
5sulfate transport (GO:0008272)6.03957110
6translational termination (GO:0006415)5.80416670
7DNA deamination (GO:0045006)5.64889402
8SRP-dependent cotranslational protein targeting to membrane (GO:0006614)5.48898339
9ribosomal small subunit biogenesis (GO:0042274)5.43588268
10cotranslational protein targeting to membrane (GO:0006613)5.40142433
11protein targeting to ER (GO:0045047)5.35559103
12excretion (GO:0007588)5.18339714
13protein localization to endoplasmic reticulum (GO:0070972)5.10657485
14establishment of protein localization to endoplasmic reticulum (GO:0072599)5.08081582
15GDP-mannose metabolic process (GO:0019673)5.07056899
16lymphoid progenitor cell differentiation (GO:0002320)5.03509386
17response to mercury ion (GO:0046689)5.01919487
18calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)4.87258720
19translational elongation (GO:0006414)4.83829808
20* regulation of apoptotic process involved in morphogenesis (GO:1902337)4.82027763
21respiratory chain complex IV assembly (GO:0008535)4.70657850
22* metanephric nephron tubule development (GO:0072234)4.65125512
23* metanephric tubule development (GO:0072170)4.65125512
24* metanephric nephron epithelium development (GO:0072243)4.57481799
25generation of neurons (GO:0048699)4.51750403
26telomere maintenance via semi-conservative replication (GO:0032201)4.50130299
27viral life cycle (GO:0019058)4.45153321
28* metanephric epithelium development (GO:0072207)4.36317315
29actin filament depolymerization (GO:0030042)4.33999394
30mannosylation (GO:0097502)4.33225258
31peptidyl-threonine dephosphorylation (GO:0035970)4.29004594
32maturation of SSU-rRNA (GO:0030490)4.25221381
33cellular protein complex disassembly (GO:0043624)4.24396292
34nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)4.18738931
35platelet dense granule organization (GO:0060155)4.14787860
36facial nerve structural organization (GO:0021612)4.13076852
37positive regulation of glycoprotein biosynthetic process (GO:0010560)4.12716598
38collecting duct development (GO:0072044)4.12348291
39* regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)4.10708062
40antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.01777722
41translational initiation (GO:0006413)3.97763920
42negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)3.96533214
43response to interferon-alpha (GO:0035455)3.96521838
44GPI anchor biosynthetic process (GO:0006506)3.94702359
45cardiovascular system development (GO:0072358)3.92396734
46positive regulation of p38MAPK cascade (GO:1900745)3.88920191
47negative regulation of erythrocyte differentiation (GO:0045647)3.88470455
48L-fucose catabolic process (GO:0042355)3.87080952
49fucose catabolic process (GO:0019317)3.87080952
50L-fucose metabolic process (GO:0042354)3.87080952
51postsynaptic membrane organization (GO:0001941)3.84552280
52* negative regulation of metanephros development (GO:0072217)3.82991953
53polyol transport (GO:0015791)3.80536903
54regulation of type B pancreatic cell apoptotic process (GO:2000674)3.73617846
55phosphate ion transport (GO:0006817)3.73109857
56signal peptide processing (GO:0006465)3.72641961
57ribosomal large subunit biogenesis (GO:0042273)3.71075482
58barbed-end actin filament capping (GO:0051016)3.67938580
59telomere maintenance via recombination (GO:0000722)3.67853788
60protein complex disassembly (GO:0043241)3.67804285
61deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.65568425
62cytochrome complex assembly (GO:0017004)3.61456898
63C-terminal protein lipidation (GO:0006501)3.58751350
64hydrogen peroxide catabolic process (GO:0042744)3.58259817
65response to water (GO:0009415)3.55231047
66proteasome assembly (GO:0043248)3.54909085
67positive regulation of protein export from nucleus (GO:0046827)3.50081129
68DNA strand elongation involved in DNA replication (GO:0006271)3.47955461
69macromolecular complex disassembly (GO:0032984)3.46758725
70* negative regulation of mesenchymal cell apoptotic process (GO:2001054)3.45768020
71cranial nerve morphogenesis (GO:0021602)3.43340279
72protein targeting to membrane (GO:0006612)3.41801824
73DNA replication initiation (GO:0006270)3.40426705
74* regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033393.34692024
75response to interferon-beta (GO:0035456)3.34001936
76definitive hemopoiesis (GO:0060216)3.32974271
77hormone biosynthetic process (GO:0042446)3.32683149
78DNA strand elongation (GO:0022616)3.32059443
79negative regulation of fatty acid transport (GO:2000192)3.29307368
80dolichol-linked oligosaccharide biosynthetic process (GO:0006488)3.29119240
81* nephron tubule development (GO:0072080)3.28095118
82* nephron tubule formation (GO:0072079)3.26104751
83regulation of water loss via skin (GO:0033561)3.25575158
84mitotic recombination (GO:0006312)3.22744357
85translation (GO:0006412)3.22582622
86pseudouridine synthesis (GO:0001522)3.22263445
87regulation of p38MAPK cascade (GO:1900744)3.20712600
88GPI anchor metabolic process (GO:0006505)3.17602215
89cell volume homeostasis (GO:0006884)3.16065830
90sulfur compound transport (GO:0072348)3.14247274
91genitalia morphogenesis (GO:0035112)3.14126345
92negative regulation of transcription by competitive promoter binding (GO:0010944)3.13947878
93phospholipid scrambling (GO:0017121)3.12949304
94regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.11775511
95nuclear-transcribed mRNA catabolic process (GO:0000956)3.11711016
96mature B cell differentiation involved in immune response (GO:0002313)3.11232500
97regulation of pigment cell differentiation (GO:0050932)3.10523120
98endothelial cell chemotaxis (GO:0035767)3.08935080
99phenol-containing compound metabolic process (GO:0018958)3.08074242
100regulation of branching involved in salivary gland morphogenesis (GO:0060693)3.06967219
101antigen processing and presentation via MHC class Ib (GO:0002475)3.04827560
102peptide catabolic process (GO:0043171)3.04106188
103phosphate ion transmembrane transport (GO:0035435)3.03884446
104regulation of myelination (GO:0031641)3.02267999
105* renal tubule development (GO:0061326)3.02188722
106cranial nerve structural organization (GO:0021604)3.01058311
107thyroid hormone generation (GO:0006590)20.5358160
108mRNA catabolic process (GO:0006402)2.99968772
109regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.98667364
110endosome to pigment granule transport (GO:0043485)2.98003084
111endosome to melanosome transport (GO:0035646)2.98003084
112mesodermal cell differentiation (GO:0048333)2.97356663
113regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.96309002
114lung vasculature development (GO:0060426)2.92606881
115mast cell activation (GO:0045576)2.92402746
116ribonucleoprotein complex biogenesis (GO:0022613)2.91748364
117positive regulation of glycoprotein metabolic process (GO:1903020)2.91248151
118positive regulation of gluconeogenesis (GO:0045722)2.90574681
119telomere maintenance via telomere lengthening (GO:0010833)2.89567544
120membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.88353034
121regulation of hippo signaling (GO:0035330)2.87593044
122endothelial cell morphogenesis (GO:0001886)2.86907183
123transcription elongation from RNA polymerase III promoter (GO:0006385)2.85659305
124termination of RNA polymerase III transcription (GO:0006386)2.85659305
125antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.84007107
126antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.84007107
127C-terminal protein amino acid modification (GO:0018410)2.83599306
128positive regulation of T cell mediated cytotoxicity (GO:0001916)2.83223375
129mitochondrial respiratory chain complex I assembly (GO:0032981)2.82491606
130NADH dehydrogenase complex assembly (GO:0010257)2.82491606
131mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.82491606
132RNA catabolic process (GO:0006401)2.81575457
133positive regulation of vesicle fusion (GO:0031340)2.80061746
134* nephron epithelium development (GO:0072009)2.78960842
135angiogenesis involved in wound healing (GO:0060055)2.78772792
136urate metabolic process (GO:0046415)2.78427866
137* regulation of nephron tubule epithelial cell differentiation (GO:0072182)2.77428305
138positive regulation of digestive system process (GO:0060456)2.75511091
139pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.75037686
140mature B cell differentiation (GO:0002335)2.74952477
141positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:003602.74642279
142regulation of metalloenzyme activity (GO:0048552)2.72969210
143negative regulation of hormone biosynthetic process (GO:0032353)2.72085377
144multicellular organismal water homeostasis (GO:0050891)2.66773455
145lymph node development (GO:0048535)2.66645599
146regulation of T cell mediated cytotoxicity (GO:0001914)2.64741877
147cellular response to thyroid hormone stimulus (GO:0097067)2.63240244
148regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.62828008
149endothelium development (GO:0003158)2.62758677
150cell differentiation involved in metanephros development (GO:0072202)2.62042120
151positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.62031297
152response to thyroid hormone (GO:0097066)2.61832671
153fucosylation (GO:0036065)2.61362246
154sexual reproduction (GO:0019953)2.61211644
155inorganic anion transport (GO:0015698)2.60371034
156DNA ligation (GO:0006266)2.59888073
157membrane repolarization during action potential (GO:0086011)2.59473067
158cellular component biogenesis (GO:0044085)2.59414432
159regulation of developmental pigmentation (GO:0048070)2.58938997
160regulation of protein localization to cell surface (GO:2000008)2.58631351
161defense response to protozoan (GO:0042832)2.58421301
162establishment of endothelial barrier (GO:0061028)2.57380935
163GTP biosynthetic process (GO:0006183)2.56909543
164cell-cell junction maintenance (GO:0045217)2.55659181
165positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)2.55557294
166* regulation of epithelial cell differentiation involved in kidney development (GO:2000696)2.55081733
167hemidesmosome assembly (GO:0031581)2.55045236
168desmosome organization (GO:0002934)2.53374311
169water homeostasis (GO:0030104)2.52990580
170regulation of Rap GTPase activity (GO:0032317)2.51488076
171skin morphogenesis (GO:0043589)2.51193915
172* negative regulation of kidney development (GO:0090185)2.50041819
173endocrine hormone secretion (GO:0060986)2.48632336
174membrane raft organization (GO:0031579)2.47351035
175negative regulation of lipid storage (GO:0010888)2.46886918
176cell adhesion mediated by integrin (GO:0033627)2.46868267
177regulation of steroid hormone biosynthetic process (GO:0090030)2.45938285
178* regulation of mesenchymal cell apoptotic process (GO:2001053)2.45887360
179positive regulation of glomerulus development (GO:0090193)2.45706159
180regulation of endothelial cell chemotaxis (GO:2001026)2.44797733
181glomerular basement membrane development (GO:0032836)2.44038289
182* cellular response to gonadotropin stimulus (GO:0071371)2.44031231
183mammary gland alveolus development (GO:0060749)2.43473559
184sodium-independent organic anion transport (GO:0043252)2.42513725
185establishment of skin barrier (GO:0061436)2.41666460
186regulation of transforming growth factor beta1 production (GO:0032908)2.39580113
187* mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)2.39275415
188negative regulation of hormone metabolic process (GO:0032351)2.38896319
189regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00432.38380033
190bone remodeling (GO:0046849)2.38275962
191positive regulation of astrocyte differentiation (GO:0048711)2.36403522
192hydrogen peroxide metabolic process (GO:0042743)2.36249970
193regulation of lipoprotein metabolic process (GO:0050746)2.34295617
194positive regulation of osteoblast proliferation (GO:0033690)2.33839994
195quaternary ammonium group transport (GO:0015697)2.31025416
196positive regulation of Rap GTPase activity (GO:0032854)2.30037720
197mRNA transcription (GO:0009299)2.29835378
198glutathione biosynthetic process (GO:0006750)2.29228957
199glomerular visceral epithelial cell development (GO:0072015)2.28554995
200thyroid hormone metabolic process (GO:0042403)16.5405033

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SOX9_22984422_ChIP-ChIP_TESTIS_Rat5.40556049
2TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.95135426
3ESR1_21235772_ChIP-Seq_MCF-7_Human3.59484435
4NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.49697484
5TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.47130628
6E2F7_22180533_ChIP-Seq_HELA_Human3.46440154
7TRIM28_21343339_ChIP-Seq_HEK293_Human3.41200189
8ESR2_21235772_ChIP-Seq_MCF-7_Human3.40426881
9ELF1_17652178_ChIP-ChIP_JURKAT_Human3.38917901
10MYC_18555785_ChIP-Seq_MESCs_Mouse3.36008946
11HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.31058872
12SCL_19346495_ChIP-Seq_HPC-7_Human3.26132990
13FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.21801598
14EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.16321569
15SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse3.07522428
16GABP_17652178_ChIP-ChIP_JURKAT_Human3.04745550
17KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.97854255
18* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.90268245
19FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.82104975
20RARG_19884340_ChIP-ChIP_MEFs_Mouse2.81525776
21TAL1_20887958_ChIP-Seq_HPC-7_Mouse2.77836377
22EST1_17652178_ChIP-ChIP_JURKAT_Human2.73723329
23TP63_17297297_ChIP-ChIP_HaCaT_Human2.72525666
24JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.70396829
25MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.65622767
26NOTCH1_21737748_ChIP-Seq_TLL_Human2.58156877
27LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.57367872
28IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.55867572
29EZH2_22144423_ChIP-Seq_EOC_Human2.53255537
30CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.51450601
31MYC_18358816_ChIP-ChIP_MESCs_Mouse2.51141398
32ERG_20887958_ChIP-Seq_HPC-7_Mouse2.50228512
33GATA1_22025678_ChIP-Seq_K562_Human2.42062082
34HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.41647009
35IRF8_22096565_ChIP-ChIP_GC-B_Human2.41445578
36ETS1_20019798_ChIP-Seq_JURKAT_Human2.31950471
37SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.26540847
38* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.16255186
39VDR_23849224_ChIP-Seq_CD4+_Human2.13049968
40NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.10750278
41HOXB4_20404135_ChIP-ChIP_EML_Mouse2.08951620
42MYB_21317192_ChIP-Seq_ERMYB_Mouse2.05810731
43THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.03409671
44SPI1_23547873_ChIP-Seq_NB4_Human2.01884772
45NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.00184773
46CLOCK_20551151_ChIP-Seq_293T_Human1.95652693
47PPAR_26484153_Chip-Seq_NCI-H1993_Human1.94044765
48SRF_21415370_ChIP-Seq_HL-1_Mouse1.93819846
49SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.93702738
50CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.91944710
51MYC_19030024_ChIP-ChIP_MESCs_Mouse1.89874656
52ZNF217_24962896_ChIP-Seq_MCF-7_Human1.89339367
53HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.89297772
54ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.86634964
55CDX2_20551321_ChIP-Seq_CACO-2_Human1.86297898
56FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.84901018
57TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.84842322
58ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.83414287
59FOXO3_23340844_ChIP-Seq_DLD1_Human1.80632366
60FOXP3_21729870_ChIP-Seq_TREG_Human1.79055673
61IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.76604211
62SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.76460710
63RACK7_27058665_Chip-Seq_MCF-7_Human1.72050392
64* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.71447224
65TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.70319008
66KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.70301259
67CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.70147515
68GATA2_21666600_ChIP-Seq_HMVEC_Human1.69330538
69BP1_19119308_ChIP-ChIP_Hs578T_Human1.68274313
70MYC_19079543_ChIP-ChIP_MESCs_Mouse1.67896610
71GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.66717056
72SOX2_20726797_ChIP-Seq_SW620_Human1.66439108
73SOX9_24532713_ChIP-Seq_HFSC_Mouse1.66174632
74HIF1A_21447827_ChIP-Seq_MCF-7_Human1.65293920
75E2F1_18555785_ChIP-Seq_MESCs_Mouse1.63144714
76STAT4_19710469_ChIP-ChIP_TH1__Mouse1.63011169
77RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.59474875
78XRN2_22483619_ChIP-Seq_HELA_Human1.59069396
79MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.57051686
80EP300_21415370_ChIP-Seq_HL-1_Mouse1.54573194
81SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.54563807
82SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.54563807
83SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.54286928
84THAP11_20581084_ChIP-Seq_MESCs_Mouse1.52151932
85TTF2_22483619_ChIP-Seq_HELA_Human1.50287428
86CJUN_26792858_Chip-Seq_BT549_Human1.48900987
87KDM2B_26808549_Chip-Seq_SUP-B15_Human1.48572013
88DCP1A_22483619_ChIP-Seq_HELA_Human1.48153014
89FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.46939412
90FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.46927017
91E2F4_17652178_ChIP-ChIP_JURKAT_Human1.46295946
92CREB1_15753290_ChIP-ChIP_HEK293T_Human1.46244478
93STAT6_21828071_ChIP-Seq_BEAS2B_Human1.46105587
94VDR_24763502_ChIP-Seq_THP-1_Human1.45972991
95TP53_16413492_ChIP-PET_HCT116_Human1.45869082
96NFIB_24661679_ChIP-Seq_LUNG_Mouse1.45714165
97ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.44922287
98CDX2_19796622_ChIP-Seq_MESCs_Mouse1.43193277
99VDR_21846776_ChIP-Seq_THP-1_Human1.42049495
100ELK1_19687146_ChIP-ChIP_HELA_Human1.41599849
101RXR_22158963_ChIP-Seq_LIVER_Mouse1.40975905
102LXR_22158963_ChIP-Seq_LIVER_Mouse1.39966067
103GATA1_22383799_ChIP-Seq_G1ME_Mouse1.39708202
104KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.38621909
105RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.36458755
106RUNX1_27514584_Chip-Seq_MCF-7_Human1.36219686
107ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.34304831
108TBX20_22328084_ChIP-Seq_HEART_Mouse1.33737835
109TBX20_22080862_ChIP-Seq_HEART_Mouse1.33737835
110GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.33599378
111ESR1_20079471_ChIP-ChIP_T-47D_Human1.33345959
112IRF8_21731497_ChIP-ChIP_J774_Mouse1.32202384
113* LXR_22292898_ChIP-Seq_THP-1_Human1.31265663
114ESR1_15608294_ChIP-ChIP_MCF-7_Human1.30322001
115MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.29754025
116YY1_21170310_ChIP-Seq_MESCs_Mouse1.29639285
117CTNNB1_20460455_ChIP-Seq_HCT116_Human1.25159895
118MYB_26560356_Chip-Seq_TH2_Human1.24485933
119JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.23038101
120PPARA_22158963_ChIP-Seq_LIVER_Mouse1.22948577
121RUNX1_22412390_ChIP-Seq_EML_Mouse1.22581858
122CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.22279239
123ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.22073195
124SALL4_18804426_ChIP-ChIP_XEN_Mouse1.21816772
125KLF5_25053715_ChIP-Seq_YYC3_Human1.21700591
126SMAD3_21741376_ChIP-Seq_HESCs_Human1.21077374
127ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.21020984
128TP53_22127205_ChIP-Seq_IMR90_Human1.19439625
129STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.18558018
130JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.18228757
131AHR_22903824_ChIP-Seq_MCF-7_Human1.17550549
132IRF1_19129219_ChIP-ChIP_H3396_Human1.17410212
133CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.17280737
134KDM2B_26808549_Chip-Seq_K562_Human1.17036442
135CIITA_25753668_ChIP-Seq_RAJI_Human1.16839729
136FOXA2_19822575_ChIP-Seq_HepG2_Human1.16422726
137IGF1R_20145208_ChIP-Seq_DFB_Human1.15287969
138NELFA_20434984_ChIP-Seq_ESCs_Mouse1.15098754
139ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.15017945
140GATA2_22383799_ChIP-Seq_G1ME_Mouse1.14787561
141UBF1/2_26484160_Chip-Seq_HMECs_Human1.14678084
142GABP_19822575_ChIP-Seq_HepG2_Human1.14264922
143ELK3_25401928_ChIP-Seq_HUVEC_Human1.13802565
144MYC_18940864_ChIP-ChIP_HL60_Human1.13794967
145ATF3_27146783_Chip-Seq_COLON_Human1.12298951
146SOX2_27498859_Chip-Seq_STOMACH_Mouse1.12208290
147PU.1_20513432_ChIP-Seq_Bcells_Mouse1.10767883
148MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.08948873
149SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.07984391
150Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.07732004
151ELK1_22589737_ChIP-Seq_MCF10A_Human1.06833217
152NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.05874943
153GATA1_19941826_ChIP-Seq_K562_Human1.05497874
154ZFX_18555785_ChIP-Seq_MESCs_Mouse1.05244935
155ARNT_22903824_ChIP-Seq_MCF-7_Human1.04312664
156* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.04201536
157TP53_23651856_ChIP-Seq_MEFs_Mouse1.03007828
158GATA6_25053715_ChIP-Seq_YYC3_Human1.01646806
159EGR1_19374776_ChIP-ChIP_THP-1_Human1.00822650
160CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.99243292
161* MTF2_20144788_ChIP-Seq_MESCs_Mouse0.98537245
162FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.97221874
163CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.96700339
164EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.96215483
165MAF_26560356_Chip-Seq_TH1_Human0.96139991
166* MYB_26560356_Chip-Seq_TH1_Human0.94656843
167P300_27058665_Chip-Seq_ZR-75-30cells_Human0.94465940
168IRF8_27001747_Chip-Seq_BMDM_Mouse0.94245152
169STAT1_20625510_ChIP-Seq_HELA_Human0.92985614
170UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.90649741
171GATA4_25053715_ChIP-Seq_YYC3_Human0.90448801
172CREB1_26743006_Chip-Seq_LNCaP_Human0.90161825
173SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.90160523
174SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.89990401
175P63_26484246_Chip-Seq_KERATINOCYTES_Human0.88709519
176PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.87054267
177GATA3_21867929_ChIP-Seq_CD8_Mouse0.86909260
178TCF7_22412390_ChIP-Seq_EML_Mouse0.85367785
179MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.85366244
180PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.85246536
181MYC_22102868_ChIP-Seq_BL_Human0.83625071
182* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82880020
183CTCF_18555785_ChIP-Seq_MESCs_Mouse0.82659605
184TP63_22573176_ChIP-Seq_HFKS_Human0.82495138
185BRD4_25478319_ChIP-Seq_HGPS_Human0.82426463
186EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.82176314
187TP53_18474530_ChIP-ChIP_U2OS_Human0.81743169
188DROSHA_22980978_ChIP-Seq_HELA_Human0.80445177
189* SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.80386327
190* JARID2_20075857_ChIP-Seq_MESCs_Mouse0.79663157
191TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.79266879
192ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.78393445
193ERG_20517297_ChIP-Seq_VCAP_Human0.77802127
194GATA1_19941827_ChIP-Seq_MEL_Mouse0.77338889
195PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.77173306
196CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.76899460

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004043_abnormal_pH_regulation6.37127641
2MP0009379_abnormal_foot_pigmentation5.68951086
3MP0005174_abnormal_tail_pigmentation4.08882277
4MP0005409_darkened_coat_color3.85775604
5MP0001188_hyperpigmentation3.73726035
6MP0003195_calcinosis3.49436059
7MP0002138_abnormal_hepatobiliary_system3.42915596
8MP0000383_abnormal_hair_follicle3.32268240
9MP0001756_abnormal_urination3.29625006
10MP0006292_abnormal_olfactory_placode3.01042573
11MP0002396_abnormal_hematopoietic_system3.00395910
12MP0005075_abnormal_melanosome_morpholog2.94582364
13MP0010678_abnormal_skin_adnexa2.92377876
14MP0008004_abnormal_stomach_pH2.80076649
15MP0000490_abnormal_crypts_of2.75814793
16MP0003724_increased_susceptibility_to2.71600292
17MP0010368_abnormal_lymphatic_system2.63165912
18MP0001501_abnormal_sleep_pattern2.56347291
19MP0004147_increased_porphyrin_level2.53946825
20MP0009785_altered_susceptibility_to2.53120805
21MP0000015_abnormal_ear_pigmentation2.47924883
22MP0003136_yellow_coat_color2.45794152
23MP0010386_abnormal_urinary_bladder2.44273800
24MP0001835_abnormal_antigen_presentation2.43260127
25MP0009643_abnormal_urine_homeostasis2.32560234
26MP0005671_abnormal_response_to2.30904318
27MP0004019_abnormal_vitamin_homeostasis2.28393103
28MP0003868_abnormal_feces_composition2.22511948
29MP0002095_abnormal_skin_pigmentation2.21222500
30MP0003300_gastrointestinal_ulcer2.18969975
31MP0001765_abnormal_ion_homeostasis2.17776223
32MP0000685_abnormal_immune_system2.13789315
33MP0003566_abnormal_cell_adhesion2.10586388
34MP0004381_abnormal_hair_follicle2.07965372
35MP0003646_muscle_fatigue2.00939706
36MP0002877_abnormal_melanocyte_morpholog1.99323670
37MP0002148_abnormal_hypersensitivity_rea1.99192881
38MP0004272_abnormal_basement_membrane1.98494584
39MP0005023_abnormal_wound_healing1.95357060
40MP0001986_abnormal_taste_sensitivity1.94466886
41MP0002168_other_aberrant_phenotype1.91065952
42MP0005025_abnormal_response_to1.89200132
43MP0003763_abnormal_thymus_physiology1.87293124
44MP0000465_gastrointestinal_hemorrhage1.87173032
45MP0000534_abnormal_ureter_morphology1.85536307
46MP0002928_abnormal_bile_duct1.85097233
47MP0003183_abnormal_peptide_metabolism1.84606499
48MP0002136_abnormal_kidney_physiology1.81091694
49MP0009333_abnormal_splenocyte_physiolog1.80276860
50MP0002876_abnormal_thyroid_physiology1.78574490
51MP0004885_abnormal_endolymph1.74856138
52MP0000372_irregular_coat_pigmentation1.74510945
53MP0003045_fibrosis1.71143621
54MP0005058_abnormal_lysosome_morphology1.65496539
55MP0002254_reproductive_system_inflammat1.64634862
56MP0005000_abnormal_immune_tolerance1.60379065
57MP0001545_abnormal_hematopoietic_system1.56110482
58MP0005397_hematopoietic_system_phenotyp1.56110482
59MP0003252_abnormal_bile_duct1.50623824
60MP0003436_decreased_susceptibility_to1.48140626
61MP0010155_abnormal_intestine_physiology1.47731084
62MP0002398_abnormal_bone_marrow1.47484276
63MP0002723_abnormal_immune_serum1.46321462
64MP0008007_abnormal_cellular_replicative1.46083524
65MP0002420_abnormal_adaptive_immunity1.45874837
66MP0005076_abnormal_cell_differentiation1.44358109
67MP0001819_abnormal_immune_cell1.43927320
68* MP0000681_abnormal_thyroid_gland1.41433106
69MP0001853_heart_inflammation1.40399242
70MP0001800_abnormal_humoral_immune1.39892152
71MP0002419_abnormal_innate_immunity1.38279116
72MP0004264_abnormal_extraembryonic_tissu1.37647940
73MP0001873_stomach_inflammation1.37003190
74MP0000689_abnormal_spleen_morphology1.36804294
75MP0008058_abnormal_DNA_repair1.36613407
76MP0003866_abnormal_defecation1.34609040
77MP0002452_abnormal_antigen_presenting1.34592362
78MP0003880_abnormal_central_pattern1.34222752
79MP0004808_abnormal_hematopoietic_stem1.33711896
80MP0003091_abnormal_cell_migration1.32359509
81MP0000716_abnormal_immune_system1.30559010
82MP0002722_abnormal_immune_system1.25430901
83MP0001502_abnormal_circadian_rhythm1.25429652
84MP0000678_abnormal_parathyroid_gland1.24595998
85MP0005464_abnormal_platelet_physiology1.23421882
86MP0003693_abnormal_embryo_hatching1.23206294
87MP0002429_abnormal_blood_cell1.19644463
88MP0003453_abnormal_keratinocyte_physiol1.18938973
89MP0001958_emphysema1.18552140
90MP0002638_abnormal_pupillary_reflex1.15939158
91MP0004510_myositis1.15316044
92MP0002166_altered_tumor_susceptibility1.13072095
93MP0008260_abnormal_autophagy1.12015443
94MP0002938_white_spotting1.09441072
95MP0005084_abnormal_gallbladder_morpholo1.09331159
96MP0005332_abnormal_amino_acid1.08559287
97MP0006054_spinal_hemorrhage1.07402576
98MP0001663_abnormal_digestive_system1.06896713
99MP0003950_abnormal_plasma_membrane1.06804574
100MP0001485_abnormal_pinna_reflex1.05211984
101MP0001270_distended_abdomen1.04236609
102MP0006036_abnormal_mitochondrial_physio1.04081140
103MP0001845_abnormal_inflammatory_respons1.02651634
104MP0002132_abnormal_respiratory_system1.02566828
105MP0005360_urolithiasis1.01989295
106MP0005387_immune_system_phenotype0.98888576
107MP0001790_abnormal_immune_system0.98888576
108MP0008961_abnormal_basal_metabolism0.97480532
109MP0002998_abnormal_bone_remodeling0.97400696
110MP0000003_abnormal_adipose_tissue0.96600687
111MP0002006_tumorigenesis0.95322401
112MP0008469_abnormal_protein_level0.94833855
113MP0003959_abnormal_lean_body0.94465243
114MP0005375_adipose_tissue_phenotype0.93370879
115MP0003786_premature_aging0.91027268
116MP0005636_abnormal_mineral_homeostasis0.90210527
117MP0010094_abnormal_chromosome_stability0.88527376
118MP0002933_joint_inflammation0.88462619
119MP0001879_abnormal_lymphatic_vessel0.88376253
120MP0002135_abnormal_kidney_morphology0.87256341
121MP0002751_abnormal_autonomic_nervous0.84799229
122MP0000477_abnormal_intestine_morphology0.83604837
123MP0003828_pulmonary_edema0.83331412
124MP0004185_abnormal_adipocyte_glucose0.83076128
125MP0001881_abnormal_mammary_gland0.82972974
126MP0002139_abnormal_hepatobiliary_system0.82456841
127MP0000538_abnormal_urinary_bladder0.82169240
128MP0002405_respiratory_system_inflammati0.81045711
129MP0002102_abnormal_ear_morphology0.79730454
130MP0005584_abnormal_enzyme/coenzyme_acti0.79436281
131MP0000537_abnormal_urethra_morphology0.78690212
132MP0000703_abnormal_thymus_morphology0.78235365
133MP0000613_abnormal_salivary_gland0.77637904
134MP0005395_other_phenotype0.77158955
135MP0000013_abnormal_adipose_tissue0.77113893
136MP0002796_impaired_skin_barrier0.76609923
137MP0004947_skin_inflammation0.76604055
138MP0002019_abnormal_tumor_incidence0.76244674
139MP0002249_abnormal_larynx_morphology0.76223854
140MP0004742_abnormal_vestibular_system0.76147302
141MP0002075_abnormal_coat/hair_pigmentati0.75728758
142MP0004858_abnormal_nervous_system0.75522441
143MP0003656_abnormal_erythrocyte_physiolo0.75247884
144MP0005666_abnormal_adipose_tissue0.74497181
145MP0000762_abnormal_tongue_morphology0.73896931
146MP0008057_abnormal_DNA_replication0.73483930
147MP0003186_abnormal_redox_activity0.72418707
148MP0009840_abnormal_foam_cell0.72409612
149MP0002896_abnormal_bone_mineralization0.72375834
150MP0009764_decreased_sensitivity_to0.72282159
151MP0000343_altered_response_to0.72071734
152MP0003705_abnormal_hypodermis_morpholog0.70615646
153* MP0002177_abnormal_outer_ear0.70501390
154MP0004957_abnormal_blastocyst_morpholog0.69048935
155MP0003315_abnormal_perineum_morphology0.68804225
156MP0000470_abnormal_stomach_morphology0.67852190
157MP0009780_abnormal_chondrocyte_physiolo0.66793616
158MP0003303_peritoneal_inflammation0.66315698
159MP0010771_integument_phenotype0.65709714
160MP0001851_eye_inflammation0.65650479
161MP0005381_digestive/alimentary_phenotyp0.65333268
162MP0003191_abnormal_cellular_cholesterol0.64311654
163MP0000858_altered_metastatic_potential0.64175422
164MP0005164_abnormal_response_to0.64024000
165MP0003942_abnormal_urinary_system0.62667394
166MP0004084_abnormal_cardiac_muscle0.62236667
167MP0004142_abnormal_muscle_tone0.62090666
168MP0000627_abnormal_mammary_gland0.61319702
169MP0005165_increased_susceptibility_to0.61221036
170MP0003943_abnormal_hepatobiliary_system0.60996367
171MP0001348_abnormal_lacrimal_gland0.60522165
172MP0003011_delayed_dark_adaptation0.59857261
173MP0000733_abnormal_muscle_development0.57115281
174MP0001216_abnormal_epidermal_layer0.56915827
175MP0004233_abnormal_muscle_weight0.55913451
176MP0009278_abnormal_bone_marrow0.55662608
177* MP0003953_abnormal_hormone_level0.55305002
178MP0002060_abnormal_skin_morphology0.54551778
179MP0005365_abnormal_bile_salt0.53983425
180* MP0000026_abnormal_inner_ear0.53305508
181MP0004134_abnormal_chest_morphology0.52658371
182MP0005451_abnormal_body_composition0.49443394
183* MP0003936_abnormal_reproductive_system0.48824753
184MP0003638_abnormal_response/metabolism_0.46633731
185MP0000163_abnormal_cartilage_morphology0.46464974
186MP0004484_altered_response_of0.46221569
187MP0003795_abnormal_bone_structure0.45659344
188MP0001191_abnormal_skin_condition0.45158762
189MP0002108_abnormal_muscle_morphology0.44102695
190MP0005257_abnormal_intraocular_pressure0.43344843
191MP0005595_abnormal_vascular_smooth0.43197861

Predicted human phenotypes

RankGene SetZ-score
1* Goiter (HP:0000853)8.35428536
2Reduced antithrombin III activity (HP:0001976)8.15712830
3* Thyroid-stimulating hormone excess (HP:0002925)7.59530353
4Increased circulating renin level (HP:0000848)7.57041060
5Type I transferrin isoform profile (HP:0003642)7.45792629
6Hyperactive renin-angiotensin system (HP:0000841)7.37992236
7Metabolic alkalosis (HP:0200114)6.48363746
8Hypokalemic alkalosis (HP:0001949)6.10344685
9Tetany (HP:0001281)5.68311744
10Hyperthyroidism (HP:0000836)5.64441756
11Polyuria (HP:0000103)5.55778008
12Pili torti (HP:0003777)5.47533528
13Abnormal number of erythroid precursors (HP:0012131)5.47120867
14Abnormality of cells of the erythroid lineage (HP:0012130)5.47027374
15Abnormality of chloride homeostasis (HP:0011422)5.46291011
16Abnormal isoelectric focusing of serum transferrin (HP:0003160)5.24583582
17Abnormal protein N-linked glycosylation (HP:0012347)5.24583582
18Abnormal protein glycosylation (HP:0012346)5.24583582
19Abnormal glycosylation (HP:0012345)5.24583582
20Congenital sensorineural hearing impairment (HP:0008527)5.23842425
21* Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)5.22134864
22Hyperaldosteronism (HP:0000859)5.08773835
23Renal salt wasting (HP:0000127)4.87888774
24Polydipsia (HP:0001959)4.76029721
25Abnormal drinking behavior (HP:0030082)4.76029721
26Abnormal urine output (HP:0012590)4.58010477
27Small epiphyses (HP:0010585)4.44945814
28Abnormality of renal excretion (HP:0011036)4.29605201
29Abnormality of renin-angiotensin system (HP:0000847)4.20488154
30Reticulocytopenia (HP:0001896)4.18393380
31Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.75869647
32Hypercalciuria (HP:0002150)3.75596018
33Absent rod-and cone-mediated responses on ERG (HP:0007688)3.72897985
34Thyroid carcinoma (HP:0002890)3.54092886
35Focal segmental glomerulosclerosis (HP:0000097)3.51011871
36Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.42540172
37Severe visual impairment (HP:0001141)3.42364800
38Increased hepatocellular lipid droplets (HP:0006565)3.39190933
39Prolonged partial thromboplastin time (HP:0003645)3.37877275
40Hepatocellular necrosis (HP:0001404)3.36602216
41Thrombocytosis (HP:0001894)3.36489376
42Nonprogressive disorder (HP:0003680)3.33938583
43Abnormality of cochlea (HP:0000375)3.31617977
44Abnormal hair laboratory examination (HP:0003328)3.28764877
45Delayed epiphyseal ossification (HP:0002663)3.28480907
46Abnormality of magnesium homeostasis (HP:0004921)3.26136728
47Macrocytic anemia (HP:0001972)3.23937857
48Alkalosis (HP:0001948)3.20843059
49Ankle contracture (HP:0006466)3.20227995
50Abnormality of the heme biosynthetic pathway (HP:0010472)3.19952633
51Pallor (HP:0000980)3.14011149
52Hyperuricemia (HP:0002149)3.12431068
53Increased purine levels (HP:0004368)3.12431068
54Renal Fanconi syndrome (HP:0001994)3.11078298
55Flat occiput (HP:0005469)3.08517859
56Elevated erythrocyte sedimentation rate (HP:0003565)3.07242601
57Aplastic anemia (HP:0001915)3.04609489
58Type 2 muscle fiber atrophy (HP:0003554)3.02373493
59Exertional dyspnea (HP:0002875)3.02143555
60Petechiae (HP:0000967)2.99908221
61Lipid accumulation in hepatocytes (HP:0006561)2.96154827
62Cortical visual impairment (HP:0100704)2.94938366
63Muscle fiber atrophy (HP:0100295)2.93938563
643-Methylglutaconic aciduria (HP:0003535)2.90019746
65IgM deficiency (HP:0002850)2.89249853
66Hepatic necrosis (HP:0002605)2.87834214
67Hypokalemia (HP:0002900)2.86815358
68Gout (HP:0001997)2.85438274
69* Hypothyroidism (HP:0000821)2.85185186
70Increased intramyocellular lipid droplets (HP:0012240)2.75888732
71Adrenal overactivity (HP:0002717)2.73643227
72Abnormality of purine metabolism (HP:0004352)2.71671134
73Decreased activity of mitochondrial respiratory chain (HP:0008972)2.71079664
74Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.71079664
75Glomerulosclerosis (HP:0000096)2.70602739
76Aplasia/Hypoplasia of the sacrum (HP:0008517)2.68164092
77Nephrocalcinosis (HP:0000121)2.63693416
78Cardiovascular calcification (HP:0011915)2.63641158
79Chronic otitis media (HP:0000389)2.59239277
80Vascular calcification (HP:0004934)2.57682155
81Lower limb hyperreflexia (HP:0002395)2.49233481
82Abnormality of potassium homeostasis (HP:0011042)2.48050381
83Renal tubular acidosis (HP:0001947)2.46911292
84Microcytic anemia (HP:0001935)2.46126519
85Hypomagnesemia (HP:0002917)2.43247804
86Abnormal rod and cone electroretinograms (HP:0008323)2.43099538
87Myositis (HP:0100614)2.39889131
88Facial shape deformation (HP:0011334)2.39808028
89Potter facies (HP:0002009)2.39808028
90Microvesicular hepatic steatosis (HP:0001414)2.39351691
91Increased muscle lipid content (HP:0009058)2.38763917
92True hermaphroditism (HP:0010459)2.38337639
93Mitochondrial inheritance (HP:0001427)2.37684533
94Respiratory difficulties (HP:0002880)2.33197158
95Morphological abnormality of the inner ear (HP:0011390)2.32748590
96Irregular epiphyses (HP:0010582)2.27934262
97Mild short stature (HP:0003502)2.25410753
98* Coarse facial features (HP:0000280)2.21934852
99Prolonged bleeding time (HP:0003010)2.17515806
100Abnormality of the axillary hair (HP:0100134)2.15664129
101Abnormality of secondary sexual hair (HP:0009888)2.15664129
102Abnormality of sodium homeostasis (HP:0010931)2.15240645
103Attenuation of retinal blood vessels (HP:0007843)2.14725433
104Pancytopenia (HP:0001876)2.11756968
105Split foot (HP:0001839)2.10671845
106Abnormality of renal resorption (HP:0011038)2.09460617
107Mitral stenosis (HP:0001718)2.08223060
108Hyperparathyroidism (HP:0000843)2.07428656
109* Constipation (HP:0002019)2.06642343
110Increased CSF lactate (HP:0002490)2.03361082
111Increased serum lactate (HP:0002151)2.02678727
112Hyponatremia (HP:0002902)2.00824923
113Epiphyseal dysplasia (HP:0002656)1.97208046
114Abnormality of the prostate (HP:0008775)1.96433782
115Meningitis (HP:0001287)1.94531269
116Interstitial pulmonary disease (HP:0006530)1.91894327
117Thoracic kyphosis (HP:0002942)1.91405886
118Epistaxis (HP:0000421)1.90235103
119Abnormality of T cell physiology (HP:0011840)1.89555927
120Recurrent abscess formation (HP:0002722)1.89465089
121Tubular atrophy (HP:0000092)1.88611854
122Panhypogammaglobulinemia (HP:0003139)1.88109113
123* Hyperpituitarism (HP:0010514)1.85776595
124Acute lymphatic leukemia (HP:0006721)1.84805342
125Knee flexion contracture (HP:0006380)1.84639469
126Dehydration (HP:0001944)1.84218133
127B lymphocytopenia (HP:0010976)1.83240403
128Abnormality of B cell number (HP:0010975)1.83240403
129Abnormality of the dental pulp (HP:0006479)1.82576794
130Abnormal platelet function (HP:0011869)1.82554099
131Impaired platelet aggregation (HP:0003540)1.82554099
132Obstructive sleep apnea (HP:0002870)1.80393317
133Pendular nystagmus (HP:0012043)1.80301233
134Vacuolated lymphocytes (HP:0001922)1.79716461
135Hypoproteinemia (HP:0003075)1.79698062
136Ulnar bowing (HP:0003031)1.78914580
137Abnormality of liposaccharide metabolism (HP:0010968)1.77702912
138Abnormality of glycosphingolipid metabolism (HP:0004343)1.77702912
139Abnormality of glycolipid metabolism (HP:0010969)1.77702912
140Hyperacusis (HP:0010780)1.77622954
141Bronchomalacia (HP:0002780)1.77530059
142Abnormality of permanent molar morphology (HP:0011071)1.77039113
143Abnormality of the dental root (HP:0006486)1.77039113
144Taurodontia (HP:0000679)1.77039113
145Fibular aplasia (HP:0002990)1.76480878
146Abnormality of nucleobase metabolism (HP:0010932)1.75829737
147Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.74685138
148Abnormality of alanine metabolism (HP:0010916)1.74685138
149Hyperalaninemia (HP:0003348)1.74685138
150Aplasia/hypoplasia of the uterus (HP:0008684)1.74666035
151Progressive muscle weakness (HP:0003323)1.71785532
152Agammaglobulinemia (HP:0004432)1.71161232
153Recurrent bronchitis (HP:0002837)1.68414080
154Gonadal dysgenesis (HP:0000133)1.68234138
155Patchy hypopigmentation of hair (HP:0011365)1.67883964
156Acute myeloid leukemia (HP:0004808)1.66711953
157Hypotension (HP:0002615)1.66364237
158Proximal tubulopathy (HP:0000114)1.66233241
159Abnormality of molar (HP:0011077)1.64169524
160Abnormality of molar morphology (HP:0011070)1.64169524
161Exercise intolerance (HP:0003546)1.63641280
162Renal tubular dysfunction (HP:0000124)1.63348063
163Bowing of the arm (HP:0006488)1.63084813
164Bowed forearm bones (HP:0003956)1.63084813
165Dry hair (HP:0011359)1.62924806
166Hypoplasia of the radius (HP:0002984)1.61950685
167Aortic aneurysm (HP:0004942)1.61733321
168Broad face (HP:0000283)1.61022493
169Lactic acidosis (HP:0003128)1.60749775
170Hyperphosphaturia (HP:0003109)1.60658724
171Acute necrotizing encephalopathy (HP:0006965)1.60647815
172Pancreatic fibrosis (HP:0100732)1.60266651
173Erythema (HP:0010783)1.59651447
174Migraine (HP:0002076)1.56635548
175Abnormal mitochondria in muscle tissue (HP:0008316)1.55496205
176Neoplasm of the thyroid gland (HP:0100031)1.55441892
177Chondrocalcinosis (HP:0000934)1.55397338
178Neutropenia (HP:0001875)1.55000060
179Abnormal spermatogenesis (HP:0008669)1.54854995
180Natal tooth (HP:0000695)1.54573171
181Tracheal stenosis (HP:0002777)1.53821594
182Abnormality of Sharpey fibers (HP:0100685)1.52525134
183Abnormality of the nasal septum (HP:0000419)1.50595914
184Short nail (HP:0001799)1.49706290
185Nephritis (HP:0000123)1.46656391
186Stage 5 chronic kidney disease (HP:0003774)1.45805714
187Humeroradial synostosis (HP:0003041)1.41538410
188Synostosis involving the elbow (HP:0003938)1.41538410
189Glucose intolerance (HP:0000833)1.41031007
190Large eyes (HP:0001090)1.39850327
191Femoral bowing (HP:0002980)1.39358146
192Flattened epiphyses (HP:0003071)1.36663111
193Tubulointerstitial fibrosis (HP:0005576)1.35364795
194Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)1.35314108

Predicted kinase interactions (KEA)

RankGene SetZ-score
1WNK36.07160005
2TRIB35.01495984
3MST1R4.79101055
4EPHA24.61694504
5AKT34.14648397
6NLK4.10903450
7EIF2AK33.38557675
8STK163.10020284
9MUSK2.66052149
10KIT2.49504697
11RIPK12.44769596
12NME22.31008902
13MKNK22.10266446
14WEE12.05738833
15MET2.02529336
16CDK192.00990461
17TNIK10.6807879
18ERN11.96939916
19WNK41.84574881
20TEC1.80581014
21MKNK11.70992765
22CAMKK21.68748201
23DAPK21.66648117
24PIM21.55148661
25TLK11.52444990
26SGK21.51516254
27MAP3K31.50949855
28FES1.50491241
29FLT31.49046757
30MAP3K21.39840199
31CDK121.39602108
32VRK11.35219571
33TRPM71.34762837
34SGK31.33739587
35EIF2AK21.31929047
36MELK1.31573322
37SIK11.31283320
38IRAK41.26585336
39LMTK21.23031298
40IRAK31.21020847
41SGK4941.20967764
42SGK2231.20967764
43CASK1.20629221
44MAP3K71.20203985
45NTRK11.17265775
46BTK1.16992095
47LATS11.15026873
48DYRK31.14964070
49MATK1.13845227
50CAMK11.13288654
51CLK11.13150670
52PTK21.12135918
53MAP2K71.08881181
54PDPK11.08595918
55RET1.07722305
56TIE11.03692359
57BUB11.02611943
58YES11.01172339
59ILK1.00767621
60BRSK20.99538581
61CDC42BPA0.97747668
62CSF1R0.96475165
63TGFBR10.95892314
64STK380.95484848
65MARK20.95450479
66TGFBR20.94631110
67RPS6KA20.94565895
68DMPK0.94161733
69TTN0.93959826
70ACVR1B0.93877221
71MTOR0.93488834
72STK390.91882365
73SRPK10.89480606
74BLK0.88080751
75MAP3K120.86573719
76MAPKAPK50.84567617
77PDGFRA0.83244853
78BMX0.82734066
79EPHA30.81380822
80ADRBK20.79737466
81MAPK40.77323507
82EIF2AK10.76377889
83PDK10.71804557
84FGFR40.70493908
85EPHB10.69921130
86ABL20.69853988
87EPHB20.69831047
88MAP4K10.69684289
89JAK10.67983245
90PAK20.67765883
91MST40.64633284
92SMG10.64334862
93CHUK0.64040074
94TXK0.63262326
95LYN0.63094597
96KDR0.61920654
97CDK70.58382965
98SYK0.58142740
99MAP2K20.56843123
100TBK10.55806655
101PDGFRB0.55336431
102RIPK40.55172435
103FER0.54488197
104BCKDK0.54454392
105PRKG20.54194107
106MAPKAPK20.53197759
107ZAP700.53093314
108PTK60.52848345
109IKBKE0.51238556
110RPS6KL10.50484418
111RPS6KC10.50484418
112STK240.50248873
113LATS20.50227054
114IKBKB0.50138739
115PRKD20.47449976
116TESK10.46729694
117RPS6KA60.46596378
118CDK80.46541735
119GSK3A0.46119792
120IRAK20.44876608
121LCK0.44672805
122TYK20.44051413
123PKN10.43041800
124MAPK130.43005441
125ERBB20.41565570
126FGFR30.41539531
127MAPK150.40954278
128IRAK10.40553860
129MYLK0.39831076
130CCNB10.39761934
131BMPR1B0.39288576
132PIM10.38326933
133PAK40.37318137
134CSNK1A10.37136905
135MAP2K30.36903693
136EPHA40.35926189
137JAK30.35322388
138STK38L0.35245252
139OXSR10.34751055
140MAP3K60.34695700
141GRK70.34562765
142AKT20.34102332
143RPS6KB20.33796970
144PRKD10.33475638
145MAP3K110.32152500
146ROCK10.31768197
147HIPK20.31344166
148MAPKAPK30.30972798
149FGFR20.29694913
150TAOK30.29339808
151PRKAA20.29310144
152PLK40.27951017
153NEK20.27808495
154CSNK2A20.27547175
155CSNK1G10.27320846
156CSNK2A10.26978151
157ICK0.26066083
158NEK60.25415901
159PDK20.24828559
160RAF10.24613950
161CDK40.23982273
162CSNK1G30.22504892
163DYRK20.22465840
164CDK90.22093606
165MAPK10.22072551
166DAPK30.21463286
167SGK10.20868236
168DYRK1B0.20535881
169PINK10.19776153
170MAP2K60.18240338
171PIK3CG0.17264986
172CDK30.16695583
173MAPK110.16198887
174SCYL20.16195002
175MAP3K140.15422342
176RPS6KA40.14251086
177ABL10.12751324
178CSK0.11729885
179MAP3K10.11507337

Predicted pathways (KEGG)

RankGene SetZ-score
1* Thyroid hormone synthesis_Homo sapiens_hsa049185.70280054
2Ribosome_Homo sapiens_hsa030105.59128432
3DNA replication_Homo sapiens_hsa030304.67237503
4Protein export_Homo sapiens_hsa030603.51779443
5Mismatch repair_Homo sapiens_hsa034302.74423651
6Homologous recombination_Homo sapiens_hsa034402.62570444
7Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.61319604
8ECM-receptor interaction_Homo sapiens_hsa045122.53833308
9RNA polymerase_Homo sapiens_hsa030202.44354274
10Pyrimidine metabolism_Homo sapiens_hsa002402.43582085
11Base excision repair_Homo sapiens_hsa034102.41537708
12Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.40433486
13Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.37540867
14N-Glycan biosynthesis_Homo sapiens_hsa005102.18899040
15Spliceosome_Homo sapiens_hsa030402.15420624
16Bladder cancer_Homo sapiens_hsa052192.05283226
17Other glycan degradation_Homo sapiens_hsa005111.96433284
18Nucleotide excision repair_Homo sapiens_hsa034201.90744612
19Sulfur relay system_Homo sapiens_hsa041221.84483128
20Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.84310819
21Gastric acid secretion_Homo sapiens_hsa049711.82253351
22Focal adhesion_Homo sapiens_hsa045101.72152281
23Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.70997165
24Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.69546274
25Proteasome_Homo sapiens_hsa030501.69315981
26Hepatitis C_Homo sapiens_hsa051601.65702092
27Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.64340775
28Primary immunodeficiency_Homo sapiens_hsa053401.64295286
29Tyrosine metabolism_Homo sapiens_hsa003501.48605163
30Leukocyte transendothelial migration_Homo sapiens_hsa046701.48004599
31Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.46756582
32* Thyroid cancer_Homo sapiens_hsa052161.46043482
33Tight junction_Homo sapiens_hsa045301.41672217
34Purine metabolism_Homo sapiens_hsa002301.40278552
35Small cell lung cancer_Homo sapiens_hsa052221.40255812
36Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.39985391
37Circadian rhythm_Homo sapiens_hsa047101.35202396
38Fanconi anemia pathway_Homo sapiens_hsa034601.33724598
39Adherens junction_Homo sapiens_hsa045201.33492686
40Hematopoietic cell lineage_Homo sapiens_hsa046401.31682465
41RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.29955603
42Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.29450799
43Protein digestion and absorption_Homo sapiens_hsa049741.29095529
44Folate biosynthesis_Homo sapiens_hsa007901.27173507
45Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.24839081
46Acute myeloid leukemia_Homo sapiens_hsa052211.23489833
47Non-homologous end-joining_Homo sapiens_hsa034501.21070027
48Oxidative phosphorylation_Homo sapiens_hsa001901.18686999
49Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.16307888
50Herpes simplex infection_Homo sapiens_hsa051681.16043506
51Basal transcription factors_Homo sapiens_hsa030221.15027482
52TNF signaling pathway_Homo sapiens_hsa046681.14143993
53Amoebiasis_Homo sapiens_hsa051461.13008497
54Lysosome_Homo sapiens_hsa041421.12388394
55AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.12256221
56Fructose and mannose metabolism_Homo sapiens_hsa000511.10380634
57Measles_Homo sapiens_hsa051621.07692035
58Vitamin B6 metabolism_Homo sapiens_hsa007501.01875971
59Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.01530873
60Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.01069161
61Parkinsons disease_Homo sapiens_hsa050121.00565192
62Prostate cancer_Homo sapiens_hsa052150.97959083
63Intestinal immune network for IgA production_Homo sapiens_hsa046720.96308259
64Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.96046037
65Melanoma_Homo sapiens_hsa052180.95311393
66Galactose metabolism_Homo sapiens_hsa000520.94887315
67Proteoglycans in cancer_Homo sapiens_hsa052050.93885224
68Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.93791999
69p53 signaling pathway_Homo sapiens_hsa041150.93178953
70RNA degradation_Homo sapiens_hsa030180.92226384
71Vibrio cholerae infection_Homo sapiens_hsa051100.91711662
72Allograft rejection_Homo sapiens_hsa053300.90951753
73Leishmaniasis_Homo sapiens_hsa051400.90702956
74* Transcriptional misregulation in cancer_Homo sapiens_hsa052020.90517664
75African trypanosomiasis_Homo sapiens_hsa051430.89950968
76Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.88239560
77Pancreatic cancer_Homo sapiens_hsa052120.87851350
78Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.85375808
79Autoimmune thyroid disease_Homo sapiens_hsa053200.84512145
80Arachidonic acid metabolism_Homo sapiens_hsa005900.83901095
81One carbon pool by folate_Homo sapiens_hsa006700.83001535
82Thyroid hormone signaling pathway_Homo sapiens_hsa049190.82803581
83Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.82397657
84NF-kappa B signaling pathway_Homo sapiens_hsa040640.81447406
85Jak-STAT signaling pathway_Homo sapiens_hsa046300.77664459
86Renal cell carcinoma_Homo sapiens_hsa052110.77160804
87Endometrial cancer_Homo sapiens_hsa052130.76654745
88Sphingolipid metabolism_Homo sapiens_hsa006000.75977005
89Asthma_Homo sapiens_hsa053100.75222044
90Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.74797503
91Tryptophan metabolism_Homo sapiens_hsa003800.73982371
92Antigen processing and presentation_Homo sapiens_hsa046120.73366681
93FoxO signaling pathway_Homo sapiens_hsa040680.72540844
94SNARE interactions in vesicular transport_Homo sapiens_hsa041300.72057182
95Non-small cell lung cancer_Homo sapiens_hsa052230.70556220
96Lysine degradation_Homo sapiens_hsa003100.70129428
97Starch and sucrose metabolism_Homo sapiens_hsa005000.69829621
98Cell cycle_Homo sapiens_hsa041100.69027847
99Inositol phosphate metabolism_Homo sapiens_hsa005620.68211456
100Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.68178798
101Collecting duct acid secretion_Homo sapiens_hsa049660.68159536
102Pentose and glucuronate interconversions_Homo sapiens_hsa000400.67995071
103Systemic lupus erythematosus_Homo sapiens_hsa053220.67726611
104Chronic myeloid leukemia_Homo sapiens_hsa052200.67553063
105Insulin resistance_Homo sapiens_hsa049310.66695149
106Malaria_Homo sapiens_hsa051440.66145567
107HIF-1 signaling pathway_Homo sapiens_hsa040660.65370181
108TGF-beta signaling pathway_Homo sapiens_hsa043500.65339823
109PI3K-Akt signaling pathway_Homo sapiens_hsa041510.64947095
110Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.63692447
111Glioma_Homo sapiens_hsa052140.63293136
112Huntingtons disease_Homo sapiens_hsa050160.62234481
113Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.61620404
114Adipocytokine signaling pathway_Homo sapiens_hsa049200.61213958
115Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.60943468
116mTOR signaling pathway_Homo sapiens_hsa041500.60925141
117beta-Alanine metabolism_Homo sapiens_hsa004100.60552785
118Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.60205503
119Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.58597714
120Phenylalanine metabolism_Homo sapiens_hsa003600.58531807
121Pentose phosphate pathway_Homo sapiens_hsa000300.56018126
122Fatty acid elongation_Homo sapiens_hsa000620.55327045
123Cyanoamino acid metabolism_Homo sapiens_hsa004600.54253938
124Toxoplasmosis_Homo sapiens_hsa051450.53511527
125* Pathways in cancer_Homo sapiens_hsa052000.53296742
126B cell receptor signaling pathway_Homo sapiens_hsa046620.53258441
127Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.53245390
128Regulation of actin cytoskeleton_Homo sapiens_hsa048100.53202156
129Complement and coagulation cascades_Homo sapiens_hsa046100.52919200
130Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.52776670
131Glutathione metabolism_Homo sapiens_hsa004800.52111531
132Pertussis_Homo sapiens_hsa051330.52037019
133Metabolic pathways_Homo sapiens_hsa011000.51537667
134ErbB signaling pathway_Homo sapiens_hsa040120.50751035
135Alzheimers disease_Homo sapiens_hsa050100.50170151
136Notch signaling pathway_Homo sapiens_hsa043300.49580371
137Rap1 signaling pathway_Homo sapiens_hsa040150.49333252
138Apoptosis_Homo sapiens_hsa042100.48532598
139RNA transport_Homo sapiens_hsa030130.46004809
140Hippo signaling pathway_Homo sapiens_hsa043900.45432560
141Toll-like receptor signaling pathway_Homo sapiens_hsa046200.45040642
142NOD-like receptor signaling pathway_Homo sapiens_hsa046210.44999264
143Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.43936519
144Vitamin digestion and absorption_Homo sapiens_hsa049770.43797212
145Salmonella infection_Homo sapiens_hsa051320.43597509
146Endocytosis_Homo sapiens_hsa041440.40879409
147Choline metabolism in cancer_Homo sapiens_hsa052310.40332050
148Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.39485861
149Influenza A_Homo sapiens_hsa051640.39180711
150Glycosaminoglycan degradation_Homo sapiens_hsa005310.38373923
151Phospholipase D signaling pathway_Homo sapiens_hsa040720.37756314
152Mineral absorption_Homo sapiens_hsa049780.37468578
153Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.36436850
154Central carbon metabolism in cancer_Homo sapiens_hsa052300.36415528
155Glycerolipid metabolism_Homo sapiens_hsa005610.34774074
156Shigellosis_Homo sapiens_hsa051310.34717924
157Salivary secretion_Homo sapiens_hsa049700.34619845
158Steroid hormone biosynthesis_Homo sapiens_hsa001400.34418929
159Epstein-Barr virus infection_Homo sapiens_hsa051690.32347361
160Colorectal cancer_Homo sapiens_hsa052100.32139049
161Hepatitis B_Homo sapiens_hsa051610.30558485
162Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.30516845
163Regulation of autophagy_Homo sapiens_hsa041400.29895729
164Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.29148248
165ABC transporters_Homo sapiens_hsa020100.28297242
166Osteoclast differentiation_Homo sapiens_hsa043800.28261742
167Graft-versus-host disease_Homo sapiens_hsa053320.28052151
168Maturity onset diabetes of the young_Homo sapiens_hsa049500.27379805
169Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.27016389
170Legionellosis_Homo sapiens_hsa051340.26153195
171Drug metabolism - other enzymes_Homo sapiens_hsa009830.23945383
172Basal cell carcinoma_Homo sapiens_hsa052170.23793383
173Renin-angiotensin system_Homo sapiens_hsa046140.21600177
174Histidine metabolism_Homo sapiens_hsa003400.21304568
175Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.20525389
176Ether lipid metabolism_Homo sapiens_hsa005650.19231249
177Tuberculosis_Homo sapiens_hsa051520.19134788

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