SLC4A11

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 voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1lateral sprouting from an epithelium (GO:0060601)9.74060724
2lung epithelium development (GO:0060428)9.59536835
3otic vesicle formation (GO:0030916)9.54879494
4regulation of branching involved in salivary gland morphogenesis (GO:0060693)9.24632335
5skeletal muscle adaptation (GO:0043501)9.08993960
6radial glial cell differentiation (GO:0060019)8.55966240
7positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr8.46933903
8negative regulation of stress fiber assembly (GO:0051497)8.04574061
9embryonic camera-type eye development (GO:0031076)7.99369670
10vitamin transmembrane transport (GO:0035461)7.74443200
11purine nucleobase biosynthetic process (GO:0009113)7.54274847
12regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 7.14777917
13nucleobase biosynthetic process (GO:0046112)6.88927777
14negative regulation of Rho protein signal transduction (GO:0035024)6.81937391
15limb bud formation (GO:0060174)6.54478862
16camera-type eye morphogenesis (GO:0048593)6.49406894
17organ growth (GO:0035265)6.45435143
18protein localization to cell surface (GO:0034394)6.29404075
19muscle cell fate commitment (GO:0042693)6.26171989
20neuronal ion channel clustering (GO:0045161)6.19804082
21myelination in peripheral nervous system (GO:0022011)6.06593277
22peripheral nervous system axon ensheathment (GO:0032292)6.06593277
23lung-associated mesenchyme development (GO:0060484)5.96883455
24keratinocyte proliferation (GO:0043616)5.95931210
25genitalia morphogenesis (GO:0035112)5.89314419
26negative regulation of actin filament bundle assembly (GO:0032232)5.86206556
27ribosome assembly (GO:0042255)5.72126814
28regulation of attachment of spindle microtubules to kinetochore (GO:0051988)5.67137269
29branch elongation of an epithelium (GO:0060602)5.46986427
30mesonephros development (GO:0001823)5.44917513
31positive regulation of cell junction assembly (GO:1901890)5.44829967
32positive regulation of focal adhesion assembly (GO:0051894)5.44829967
33regulation of spindle organization (GO:0090224)5.39765742
34positive regulation of adherens junction organization (GO:1903393)5.38327900
35regulation of mitochondrial depolarization (GO:0051900)5.37916061
36folic acid metabolic process (GO:0046655)5.30907191
37ribosome biogenesis (GO:0042254)5.16846573
38white fat cell differentiation (GO:0050872)5.15069692
39mitotic metaphase plate congression (GO:0007080)5.14362224
40negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)5.14315025
41peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)5.05771528
42lung secretory cell differentiation (GO:0061140)5.02377961
43folic acid transport (GO:0015884)4.99619445
44kidney morphogenesis (GO:0060993)4.91809689
45morphogenesis of an epithelial fold (GO:0060571)4.89527339
46induction of positive chemotaxis (GO:0050930)4.81014839
47regulation of mitotic spindle organization (GO:0060236)4.64645821
48axis elongation (GO:0003401)4.53001720
49pantothenate metabolic process (GO:0015939)4.47240012
50positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)4.46234595
51organ induction (GO:0001759)4.42262195
52interferon-gamma secretion (GO:0072643)4.40047218
53intestinal epithelial cell development (GO:0060576)4.37559037
54formation of translation preinitiation complex (GO:0001731)4.33739014
55organ formation (GO:0048645)4.33694720
56regulation of keratinocyte proliferation (GO:0010837)4.30204298
57positive regulation of chromosome segregation (GO:0051984)4.29520172
58maturation of SSU-rRNA (GO:0030490)4.28497256
59regulation of cholesterol homeostasis (GO:2000188)4.25223978
60non-canonical Wnt signaling pathway (GO:0035567)4.22673685
61blastocyst development (GO:0001824)4.19534173
62regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)4.09369896
63GMP metabolic process (GO:0046037)4.07186753
64embryonic digestive tract morphogenesis (GO:0048557)4.01830868
65autophagic vacuole assembly (GO:0000045)4.00954806
66ribosomal large subunit biogenesis (GO:0042273)4.00887523
67striated muscle hypertrophy (GO:0014897)3.92082455
68mitotic nuclear envelope disassembly (GO:0007077)3.87846331
69ribonucleoprotein complex biogenesis (GO:0022613)3.86651958
70metaphase plate congression (GO:0051310)3.85089104
71spindle checkpoint (GO:0031577)3.84320963
72mitotic spindle checkpoint (GO:0071174)3.82271045
73modified amino acid transport (GO:0072337)3.79671410
74peptidyl-proline hydroxylation (GO:0019511)3.76477462
754-hydroxyproline metabolic process (GO:0019471)3.76321098
76regulation of bile acid biosynthetic process (GO:0070857)3.75607734
77mitotic G1 DNA damage checkpoint (GO:0031571)3.70505086
78smooth muscle cell differentiation (GO:0051145)3.69651662
79negative regulation of chromosome segregation (GO:0051985)3.68782369
80regulation of chromosome segregation (GO:0051983)3.68118946
81establishment of mitotic spindle orientation (GO:0000132)3.66988120
82ERK1 and ERK2 cascade (GO:0070371)3.66861168
83nuclear envelope disassembly (GO:0051081)3.66547976
84membrane disassembly (GO:0030397)3.66547976
85negative regulation of cell cycle arrest (GO:0071157)3.66403785
86nuclear envelope organization (GO:0006998)3.65629096
87rRNA modification (GO:0000154)3.65434706
88mitotic spindle assembly checkpoint (GO:0007094)3.64267867
89negative regulation of cell-matrix adhesion (GO:0001953)3.61584634
90DNA replication checkpoint (GO:0000076)3.61152847
91regulation of G0 to G1 transition (GO:0070316)3.61083681
92positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)3.60036980
93negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.59056788
94negative regulation of sister chromatid segregation (GO:0033046)3.59056788
95negative regulation of mitotic sister chromatid separation (GO:2000816)3.59056788
96negative regulation of mitotic sister chromatid segregation (GO:0033048)3.59056788
97mitotic sister chromatid segregation (GO:0000070)3.56461555
98spindle assembly checkpoint (GO:0071173)3.55971770
99thyroid gland development (GO:0030878)3.53352656
100rRNA processing (GO:0006364)3.50525610
101IMP biosynthetic process (GO:0006188)3.49891423
102branching involved in salivary gland morphogenesis (GO:0060445)3.49651845
103protein localization to kinetochore (GO:0034501)3.48056388
104negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.46467065
105nuclear pore organization (GO:0006999)3.45273786
106proteasome assembly (GO:0043248)3.42909928
107anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.40550543
108muscle hypertrophy (GO:0014896)3.37736198
109rRNA metabolic process (GO:0016072)3.37519077
110biotin metabolic process (GO:0006768)3.36690747
111vitamin transport (GO:0051180)3.36120217
112regulation of mitotic metaphase/anaphase transition (GO:0030071)3.35560725
113prostate gland epithelium morphogenesis (GO:0060740)3.35229742
114histone-serine phosphorylation (GO:0035404)3.32405199
115CDP-diacylglycerol metabolic process (GO:0046341)3.32390389
116establishment of spindle orientation (GO:0051294)3.28467448
117mitotic G1/S transition checkpoint (GO:0044819)3.27180315
118spindle assembly involved in mitosis (GO:0090307)3.27103483
119regulation of translational termination (GO:0006449)3.26536644
120regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.26366304
121DNA replication initiation (GO:0006270)3.25599756
122establishment of mitotic spindle localization (GO:0040001)3.22912706
123protein hydroxylation (GO:0018126)3.22827972
124striated muscle adaptation (GO:0014888)3.21801598
125positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)3.21325630
126regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.21239433
127regulation of translation in response to stress (GO:0043555)3.19957558
128negative regulation of fibroblast apoptotic process (GO:2000270)3.18935032
129positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.18109708
130transcription elongation from RNA polymerase I promoter (GO:0006362)3.16485457
131transcription elongation from RNA polymerase III promoter (GO:0006385)3.16417171
132termination of RNA polymerase III transcription (GO:0006386)3.16417171
133striated muscle cell proliferation (GO:0014855)3.15006247
134morphogenesis of embryonic epithelium (GO:0016331)3.14119327
135collagen catabolic process (GO:0030574)3.12610693
136termination of RNA polymerase I transcription (GO:0006363)3.12183562
137transcription from RNA polymerase I promoter (GO:0006360)3.11232355
138cardiac muscle cell proliferation (GO:0060038)3.09599299
139regulation of mitotic sister chromatid separation (GO:0010965)3.09489448
140regulation of mitotic sister chromatid segregation (GO:0033047)3.09489448
141regulation of sister chromatid segregation (GO:0033045)3.09489448
142nuclear pore complex assembly (GO:0051292)3.07809879
143mesenchymal cell differentiation (GO:0048762)3.06874152
144venous blood vessel morphogenesis (GO:0048845)3.06179328
145positive chemotaxis (GO:0050918)3.05212637
146cofactor transport (GO:0051181)3.04864917
147G1 DNA damage checkpoint (GO:0044783)3.04833201
148hair follicle morphogenesis (GO:0031069)3.04237950
149regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)3.03772432
150eye morphogenesis (GO:0048592)3.01871246
151maturation of 5.8S rRNA (GO:0000460)3.01187407
152collagen metabolic process (GO:0032963)3.00124498
153pseudouridine synthesis (GO:0001522)2.98499858
154phosphate ion transmembrane transport (GO:0035435)2.97954323
155regulation of Rho protein signal transduction (GO:0035023)2.96289016
156protein localization to chromosome, centromeric region (GO:0071459)2.95796111
157negative regulation of translational initiation (GO:0045947)2.95279197
158transcription initiation from RNA polymerase I promoter (GO:0006361)2.93133712
159regulation of centrosome cycle (GO:0046605)2.92794211
160trophectodermal cell differentiation (GO:0001829)2.92774465
161glycine metabolic process (GO:0006544)2.92087905
162S-adenosylmethionine metabolic process (GO:0046500)2.91899301
163folic acid-containing compound biosynthetic process (GO:0009396)2.91865764
164regulation of digestive system process (GO:0044058)2.90636576
165planar cell polarity pathway involved in neural tube closure (GO:0090179)2.90596417
166positive regulation of Cdc42 GTPase activity (GO:0043089)2.88993601
167negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.88657775
168DNA replication-dependent nucleosome organization (GO:0034723)2.88573763
169DNA replication-dependent nucleosome assembly (GO:0006335)2.88573763
170establishment of chromosome localization (GO:0051303)2.88567361
171prostaglandin biosynthetic process (GO:0001516)2.88223569
172prostanoid biosynthetic process (GO:0046457)2.88223569
173microtubule cytoskeleton organization involved in mitosis (GO:1902850)2.87164432
174positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.86763514
175rRNA methylation (GO:0031167)2.86710474
176positive regulation of steroid biosynthetic process (GO:0010893)2.86421186
177spliceosomal snRNP assembly (GO:0000387)2.85639561
178sister chromatid segregation (GO:0000819)2.84798491
179multicellular organismal macromolecule metabolic process (GO:0044259)2.84362580
180positive regulation of stress fiber assembly (GO:0051496)2.83933357
181positive regulation of positive chemotaxis (GO:0050927)2.83915416
182regulation of substrate adhesion-dependent cell spreading (GO:1900024)2.82813933
183ventricular cardiac muscle cell development (GO:0055015)2.82695304
184attachment of spindle microtubules to kinetochore (GO:0008608)2.82374254
185multicellular organismal catabolic process (GO:0044243)2.81696799
186regulation of adherens junction organization (GO:1903391)2.79505017
187endothelial cell chemotaxis (GO:0035767)2.77705982
188bone development (GO:0060348)2.77143773
189regulation of toll-like receptor 4 signaling pathway (GO:0034143)2.76690949
190regulation of focal adhesion assembly (GO:0051893)2.75566526
191regulation of cell-substrate junction assembly (GO:0090109)2.75566526
192regulation of positive chemotaxis (GO:0050926)2.74856409
193regulation of activin receptor signaling pathway (GO:0032925)2.72676238
194multicellular organismal metabolic process (GO:0044236)2.71357749
195muscle cell proliferation (GO:0033002)2.70916978
196regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.69444712
197glomerular basement membrane development (GO:0032836)13.1560989
198mesenchymal-epithelial cell signaling (GO:0060638)10.2630832

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.84180983
2FOXM1_23109430_ChIP-Seq_U2OS_Human4.40407926
3MYC_18555785_ChIP-Seq_MESCs_Mouse3.80788442
4TP63_17297297_ChIP-ChIP_HaCaT_Human3.78994625
5TRIM28_21343339_ChIP-Seq_HEK293_Human3.53378567
6RARG_19884340_ChIP-ChIP_MEFs_Mouse3.51632630
7HIF1A_21447827_ChIP-Seq_MCF-7_Human3.19194360
8MYC_19079543_ChIP-ChIP_MESCs_Mouse3.17016351
9ESR1_21235772_ChIP-Seq_MCF-7_Human3.14019354
10CREB1_15753290_ChIP-ChIP_HEK293T_Human2.84592385
11PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.84280580
12JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.69885925
13EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.68294608
14ETS1_20019798_ChIP-Seq_JURKAT_Human2.66464759
15AR_21909140_ChIP-Seq_LNCAP_Human2.66174448
16TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.59116749
17MYC_19030024_ChIP-ChIP_MESCs_Mouse2.55253149
18FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.54522640
19MYC_18358816_ChIP-ChIP_MESCs_Mouse2.52630186
20E2F4_17652178_ChIP-ChIP_JURKAT_Human2.43894390
21MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.42869301
22POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.36386515
23KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.34411798
24NANOG_18555785_ChIP-Seq_MESCs_Mouse2.31269247
25E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.30749705
26LXR_22292898_ChIP-Seq_THP-1_Human2.22931359
27NELFA_20434984_ChIP-Seq_ESCs_Mouse2.19729730
28EGR1_19374776_ChIP-ChIP_THP-1_Human2.14579048
29EST1_17652178_ChIP-ChIP_JURKAT_Human2.13857036
30RACK7_27058665_Chip-Seq_MCF-7_Human2.12839535
31GABP_17652178_ChIP-ChIP_JURKAT_Human2.11472725
32CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.10697012
33KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human2.10691846
34ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.02216055
35KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.01813361
36KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.01813361
37KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.01813361
38SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.00633731
39NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.97726905
40NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.96348237
41STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.94601170
42POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.91705598
43* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.86115397
44XRN2_22483619_ChIP-Seq_HELA_Human1.83034176
45KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.81528290
46KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.80636549
47NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.80636053
48ZNF263_19887448_ChIP-Seq_K562_Human1.77154316
49SOX9_24532713_ChIP-Seq_HFSC_Mouse1.77144238
50STAT3_1855785_ChIP-Seq_MESCs_Mouse1.76039137
51VDR_23849224_ChIP-Seq_CD4+_Human1.71880485
52TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.71343191
53* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.67195793
54MYCN_18555785_ChIP-Seq_MESCs_Mouse1.66867737
55WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.65923037
56KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.65396604
57NOTCH1_21737748_ChIP-Seq_TLL_Human1.65118852
58MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.64667659
59THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.62757573
60FOXO3_23340844_ChIP-Seq_DLD1_Human1.58595857
61GABP_19822575_ChIP-Seq_HepG2_Human1.56766010
62CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.56395835
63PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.55227702
64KDM2B_26808549_Chip-Seq_SUP-B15_Human1.54550120
65SALL1_21062744_ChIP-ChIP_HESCs_Human1.52627413
66* SA1_27219007_Chip-Seq_ERYTHROID_Human1.51569983
67ZFP281_18757296_ChIP-ChIP_E14_Mouse1.51521203
68P300_27058665_Chip-Seq_ZR-75-30cells_Human1.51026185
69E2F1_21310950_ChIP-Seq_MCF-7_Human1.49865776
70RXR_22158963_ChIP-Seq_LIVER_Mouse1.48987036
71NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.48378999
72* SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.47306830
73KDM5A_27292631_Chip-Seq_BREAST_Human1.46587893
74CTCF_27219007_Chip-Seq_Bcells_Human1.46140857
75UBF1/2_26484160_Chip-Seq_HMECs_Human1.42869071
76RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.40309139
77* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.40136998
78SOX2_27498859_Chip-Seq_STOMACH_Mouse1.39375916
79TCF3_18692474_ChIP-Seq_MEFs_Mouse1.39340930
80CTNNB1_20460455_ChIP-Seq_HCT116_Human1.39281326
81PPARA_22158963_ChIP-Seq_LIVER_Mouse1.38343210
82DCP1A_22483619_ChIP-Seq_HELA_Human1.38099431
83TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.36009918
84TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.34566361
85EGR1_19032775_ChIP-ChIP_M12_Human1.32131221
86TTF2_22483619_ChIP-Seq_HELA_Human1.31895220
87CREB1_26743006_Chip-Seq_LNCaP_Human1.31806697
88EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.31115456
89* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.31106298
90SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.30714879
91POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.30422544
92YY1_21170310_ChIP-Seq_MESCs_Mouse1.30035632
93SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.29998074
94TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.28746248
95SOX2_18692474_ChIP-Seq_MEFs_Mouse1.27882499
96KDM2B_26808549_Chip-Seq_K562_Human1.27728474
97CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.27678468
98NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.27133899
99FOXP3_21729870_ChIP-Seq_TREG_Human1.27104971
100* ERG_21242973_ChIP-ChIP_JURKAT_Human1.26872972
101SOX2_18555785_ChIP-Seq_MESCs_Mouse1.24249579
102OCT4_18692474_ChIP-Seq_MEFs_Mouse1.24161643
103CTCF_27219007_Chip-Seq_ERYTHROID_Human1.23916642
104NANOG_18692474_ChIP-Seq_MEFs_Mouse1.23517363
105ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.22213053
106HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.21299135
107* KLF5_25053715_ChIP-Seq_YYC3_Human1.21013778
108TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.18961211
109TP53_20018659_ChIP-ChIP_R1E_Mouse1.18920370
110NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.18258200
111ESR1_20079471_ChIP-ChIP_T-47D_Human1.18039390
112ZFX_18555785_ChIP-Seq_MESCs_Mouse1.17680908
113ATF3_27146783_Chip-Seq_COLON_Human1.16275926
114EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.16214650
115ESR1_15608294_ChIP-ChIP_MCF-7_Human1.15802722
116P68_20966046_ChIP-Seq_HELA_Human1.15742733
117KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.15660716
118SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.14913087
119TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.14872913
120DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.14747991
121CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.13600888
122THAP11_20581084_ChIP-Seq_MESCs_Mouse1.12772613
123TCF4_18268006_ChIP-ChIP_LS174T_Human1.12125218
124NANOG_21062744_ChIP-ChIP_HESCs_Human1.11580125
125CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.11474516
126TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse1.11331188
127KAP1_27257070_Chip-Seq_ESCs_Mouse1.11237900
128YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.09937195
129RUNX1_27514584_Chip-Seq_MCF-7_Human1.08931790
130* TP53_22127205_ChIP-Seq_IMR90_Human1.08432422
131SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.08055591
132MYC_22102868_ChIP-Seq_BL_Human1.08034133
133SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.07845751
134KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.06330531
135* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.05061944
136ELK1_22589737_ChIP-Seq_MCF10A_Human1.04405799
137* POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.02134716
138TCF3_18692474_ChIP-Seq_MESCs_Mouse1.01916169
139TBX20_22328084_ChIP-Seq_HEART_Mouse1.01723226
140TBX20_22080862_ChIP-Seq_HEART_Mouse1.01723226
141ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.01202718
142EP300_21415370_ChIP-Seq_HL-1_Mouse1.00894837
143SMC4_20622854_ChIP-Seq_HELA_Human1.00733698
144NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.00126664
145* SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.99684241
146* SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.99684241
147SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.99399033
148ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.99348459
149CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.99149982
150FOXA2_19822575_ChIP-Seq_HepG2_Human0.98660124
151* SOX2_18692474_ChIP-Seq_MESCs_Mouse0.98618564
152TP63_19390658_ChIP-ChIP_HaCaT_Human0.97865612
153PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.97768218
154* TP53_23651856_ChIP-Seq_MEFs_Mouse0.97566445
155NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.97124109
156ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.97078255
157NANOG_18692474_ChIP-Seq_MESCs_Mouse0.96892211
158ESR2_21235772_ChIP-Seq_MCF-7_Human0.96379574
159TP63_22573176_ChIP-Seq_HFKS_Human0.96226006
160EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.94893698
161CIITA_25753668_ChIP-Seq_RAJI_Human0.94846028
162ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.93436100
163CTCF_21964334_Chip-Seq_Bcells_Human0.92828002
164SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.92729361
165* ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.92537147
166TET1_21451524_ChIP-Seq_MESCs_Mouse0.91753428
167EOMES_21245162_ChIP-Seq_HESCs_Human0.91290113
168SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.91216576
169PPAR_26484153_Chip-Seq_NCI-H1993_Human0.90593184
170CLOCK_20551151_ChIP-Seq_293T_Human0.90099600
171BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.90059374
172STAT6_21828071_ChIP-Seq_BEAS2B_Human0.89799734
173ELK3_25401928_ChIP-Seq_HUVEC_Human0.86074636
174CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.84884914
175NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.84739147
176HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.83595213

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005257_abnormal_intraocular_pressure9.63217596
2MP0002102_abnormal_ear_morphology7.23700867
3MP0003693_abnormal_embryo_hatching6.64535712
4MP0002132_abnormal_respiratory_system5.05155013
5MP0003111_abnormal_nucleus_morphology4.76457804
6MP0005248_abnormal_Harderian_gland4.39276430
7MP0003718_maternal_effect3.81949215
8MP0004957_abnormal_blastocyst_morpholog3.77729505
9* MP0005377_hearing/vestibular/ear_phenot3.65039076
10* MP0003878_abnormal_ear_physiology3.65039076
11MP0010094_abnormal_chromosome_stability3.62922926
12MP0004272_abnormal_basement_membrane3.61756031
13MP0008260_abnormal_autophagy3.35034762
14MP0000566_synostosis3.25476609
15MP0002277_abnormal_respiratory_mucosa3.20004466
16MP0003077_abnormal_cell_cycle3.16459324
17MP0009840_abnormal_foam_cell3.07550012
18MP0002254_reproductive_system_inflammat2.58256795
19MP0003786_premature_aging2.51448540
20MP0008058_abnormal_DNA_repair2.43160995
21MP0000383_abnormal_hair_follicle2.42363339
22MP0008932_abnormal_embryonic_tissue2.41828710
23MP0005503_abnormal_tendon_morphology2.36849733
24MP0010352_gastrointestinal_tract_polyps2.34638802
25MP0002909_abnormal_adrenal_gland2.28350185
26MP0001730_embryonic_growth_arrest2.27422000
27MP0008057_abnormal_DNA_replication2.25432210
28MP0010678_abnormal_skin_adnexa2.13911621
29MP0000350_abnormal_cell_proliferation2.04955787
30MP0010307_abnormal_tumor_latency2.02705551
31MP0003941_abnormal_skin_development2.02080092
32MP0005380_embryogenesis_phenotype1.91308691
33MP0001672_abnormal_embryogenesis/_devel1.91308691
34MP0003123_paternal_imprinting1.90493817
35MP0008877_abnormal_DNA_methylation1.80681687
36MP0008007_abnormal_cellular_replicative1.79084047
37MP0010234_abnormal_vibrissa_follicle1.69439059
38MP0001697_abnormal_embryo_size1.69366293
39MP0003984_embryonic_growth_retardation1.68147686
40MP0004043_abnormal_pH_regulation1.65582812
41MP0002088_abnormal_embryonic_growth/wei1.65362429
42MP0000537_abnormal_urethra_morphology1.60828143
43MP0002295_abnormal_pulmonary_circulatio1.60401185
44MP0002080_prenatal_lethality1.53860151
45MP0001542_abnormal_bone_strength1.53408745
46MP0009250_abnormal_appendicular_skeleto1.50012555
47MP0006072_abnormal_retinal_apoptosis1.46489956
48MP0002086_abnormal_extraembryonic_tissu1.45142222
49* MP0005193_abnormal_anterior_eye1.44284533
50MP0002085_abnormal_embryonic_tissue1.43826895
51MP0005395_other_phenotype1.42607596
52MP0003315_abnormal_perineum_morphology1.41089559
53MP0002697_abnormal_eye_size1.40356381
54MP0000613_abnormal_salivary_gland1.38942336
55MP0002084_abnormal_developmental_patter1.38408221
56MP0002796_impaired_skin_barrier1.37863367
57MP0001502_abnormal_circadian_rhythm1.37424543
58MP0001661_extended_life_span1.33958294
59MP0004264_abnormal_extraembryonic_tissu1.33389012
60MP0005197_abnormal_uvea_morphology1.33323471
61MP0000627_abnormal_mammary_gland1.26074190
62MP0004019_abnormal_vitamin_homeostasis1.21416484
63MP0001849_ear_inflammation1.20053648
64MP0005451_abnormal_body_composition1.18645950
65MP0003115_abnormal_respiratory_system1.17680328
66MP0003937_abnormal_limbs/digits/tail_de1.16207511
67MP0002653_abnormal_ependyma_morphology1.16179889
68MP0009333_abnormal_splenocyte_physiolog1.13795025
69MP0003566_abnormal_cell_adhesion1.13148047
70MP0003453_abnormal_keratinocyte_physiol1.13095530
71MP0002396_abnormal_hematopoietic_system1.11740164
72MP0000428_abnormal_craniofacial_morphol1.11472795
73MP0005621_abnormal_cell_physiology1.07883192
74MP0002210_abnormal_sex_determination1.07264061
75MP0000490_abnormal_crypts_of1.05148993
76MP0001299_abnormal_eye_distance/1.04270413
77MP0003119_abnormal_digestive_system1.03338841
78MP0005501_abnormal_skin_physiology1.02658551
79MP0000750_abnormal_muscle_regeneration1.02540426
80MP0000313_abnormal_cell_death1.02314844
81MP0001545_abnormal_hematopoietic_system1.01495605
82MP0005397_hematopoietic_system_phenotyp1.01495605
83MP0001216_abnormal_epidermal_layer0.99332339
84MP0003938_abnormal_ear_development0.98106587
85MP0000647_abnormal_sebaceous_gland0.97606450
86MP0005023_abnormal_wound_healing0.97032460
87MP0005508_abnormal_skeleton_morphology0.95990719
88MP0010368_abnormal_lymphatic_system0.94567510
89MP0010030_abnormal_orbit_morphology0.92583326
90MP0003879_abnormal_hair_cell0.92544988
91MP0005384_cellular_phenotype0.92040394
92MP0005365_abnormal_bile_salt0.90906680
93MP0002098_abnormal_vibrissa_morphology0.90203576
94MP0001145_abnormal_male_reproductive0.89743707
95MP0005332_abnormal_amino_acid0.88635795
96MP0003091_abnormal_cell_migration0.87903175
97MP0000377_abnormal_hair_follicle0.87825859
98MP0003567_abnormal_fetal_cardiomyocyte0.86424520
99MP0000516_abnormal_urinary_system0.85959783
100MP0005367_renal/urinary_system_phenotyp0.85959783
101MP0003936_abnormal_reproductive_system0.83282101
102MP0000733_abnormal_muscle_development0.81933965
103MP0003942_abnormal_urinary_system0.81484180
104* MP0001756_abnormal_urination0.81111206
105MP0004197_abnormal_fetal_growth/weight/0.80748664
106* MP0000026_abnormal_inner_ear0.80374674
107MP0003221_abnormal_cardiomyocyte_apopto0.79996420
108MP0001346_abnormal_lacrimal_gland0.79990001
109MP0002932_abnormal_joint_morphology0.78408548
110MP0000358_abnormal_cell_content/0.78183385
111MP0002160_abnormal_reproductive_system0.77580907
112MP0002332_abnormal_exercise_endurance0.77307432
113MP0002019_abnormal_tumor_incidence0.75027297
114MP0005076_abnormal_cell_differentiation0.74623538
115MP0000653_abnormal_sex_gland0.73181547
116MP0000767_abnormal_smooth_muscle0.72163769
117MP0009672_abnormal_birth_weight0.71810019
118MP0009053_abnormal_anal_canal0.71480951
119MP0009278_abnormal_bone_marrow0.71102474
120MP0002269_muscular_atrophy0.70609279
121MP0003699_abnormal_female_reproductive0.69662916
122MP0005083_abnormal_biliary_tract0.69471724
123MP0002111_abnormal_tail_morphology0.69306516
124MP0003705_abnormal_hypodermis_morpholog0.69282552
125MP0000432_abnormal_head_morphology0.68731805
126MP0000579_abnormal_nail_morphology0.67609768
127MP0000747_muscle_weakness0.67493423
128MP0009703_decreased_birth_body0.66855388
129MP0004808_abnormal_hematopoietic_stem0.66334800
130MP0005409_darkened_coat_color0.65790405
131MP0001929_abnormal_gametogenesis0.65004113
132MP0000467_abnormal_esophagus_morphology0.64810359
133MP0000003_abnormal_adipose_tissue0.64490899
134MP0002877_abnormal_melanocyte_morpholog0.64275989
135MP0004133_heterotaxia0.63332413
136MP0002009_preneoplasia0.63255158
137MP0005391_vision/eye_phenotype0.62761125
138MP0002108_abnormal_muscle_morphology0.62720880
139MP0005623_abnormal_meninges_morphology0.62042152
140MP0002060_abnormal_skin_morphology0.61208625
141MP0005310_abnormal_salivary_gland0.61181212
142MP0001293_anophthalmia0.60984363
143MP0003755_abnormal_palate_morphology0.60697690
144MP0002177_abnormal_outer_ear0.60591357
145MP0002092_abnormal_eye_morphology0.58912664
146MP0000762_abnormal_tongue_morphology0.58888494
147* MP0009643_abnormal_urine_homeostasis0.57624883
148MP0002184_abnormal_innervation0.57157290
149MP0003329_amyloid_beta_deposits0.55053827
150MP0002135_abnormal_kidney_morphology0.54059895
151MP0001614_abnormal_blood_vessel0.52998638
152* MP0002136_abnormal_kidney_physiology0.52983605
153MP0004233_abnormal_muscle_weight0.52948673
154MP0000678_abnormal_parathyroid_gland0.52318014
155MP0001485_abnormal_pinna_reflex0.51893911
156MP0005058_abnormal_lysosome_morphology0.50455437
157MP0000639_abnormal_adrenal_gland0.49930871
158MP0008875_abnormal_xenobiotic_pharmacok0.49741993
159MP0002109_abnormal_limb_morphology0.46155381
160MP0001340_abnormal_eyelid_morphology0.46045858
161MP0008438_abnormal_cutaneous_collagen0.45143620
162MP0003935_abnormal_craniofacial_develop0.44877702
163MP0001915_intracranial_hemorrhage0.44146668
164MP0000477_abnormal_intestine_morphology0.43698692
165MP0002116_abnormal_craniofacial_bone0.42810143
166MP0009780_abnormal_chondrocyte_physiolo0.41946950
167MP0002115_abnormal_skeleton_extremities0.41474517
168MP0002233_abnormal_nose_morphology0.41147400
169MP0010630_abnormal_cardiac_muscle0.40901518
170MP0003385_abnormal_body_wall0.40091832

Predicted human phenotypes

RankGene SetZ-score
1Aplasia involving bones of the extremities (HP:0009825)8.36082314
2Aplasia involving bones of the upper limbs (HP:0009823)8.36082314
3Aplasia of the phalanges of the hand (HP:0009802)8.36082314
4Glomerulonephritis (HP:0000099)8.15591467
5Partial duplication of thumb phalanx (HP:0009944)7.68550510
6Partial duplication of the phalanx of hand (HP:0009999)7.25043050
7Alacrima (HP:0000522)6.02214121
8Nephritis (HP:0000123)5.93985540
9Recurrent corneal erosions (HP:0000495)5.83594876
10Abnormality of incisor morphology (HP:0011063)5.34493608
11Conical tooth (HP:0000698)5.20011440
12Corneal erosion (HP:0200020)5.14730536
13Decreased lacrimation (HP:0000633)4.98318560
14Nasolacrimal duct obstruction (HP:0000579)4.97234549
15Carpal bone hypoplasia (HP:0001498)4.83999733
16Gout (HP:0001997)4.77298399
17Breast hypoplasia (HP:0003187)4.69979981
18Pustule (HP:0200039)4.56373375
19Abnormality of the salivary glands (HP:0010286)4.52167787
20Mixed hearing impairment (HP:0000410)4.44374312
21Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)4.11627696
22Abnormality of the lacrimal duct (HP:0011481)4.08839390
23Xerostomia (HP:0000217)4.07910513
24Aplasia of the musculature (HP:0100854)4.06106735
25Abnormality of the dental root (HP:0006486)4.04729027
26Taurodontia (HP:0000679)4.04729027
27Abnormality of permanent molar morphology (HP:0011071)4.04729027
28Duplication of thumb phalanx (HP:0009942)4.03003851
29Pelvic girdle muscle weakness (HP:0003749)3.85228860
30Cerebral hypomyelination (HP:0006808)3.80545636
31Nonprogressive disorder (HP:0003680)3.79455851
32Abnormality of molar (HP:0011077)3.78571345
33Abnormality of molar morphology (HP:0011070)3.78571345
34Abnormality of the nasolacrimal system (HP:0000614)3.74712895
35Birth length less than 3rd percentile (HP:0003561)3.69352799
36Abnormality of the dental pulp (HP:0006479)3.66644510
37Impulsivity (HP:0100710)3.65561155
38Alopecia of scalp (HP:0002293)3.63828478
39Shoulder girdle muscle weakness (HP:0003547)3.62951228
40Rough bone trabeculation (HP:0100670)3.61867357
41Short nail (HP:0001799)3.59841304
42Aplasia/Hypoplasia involving the carpal bones (HP:0006502)3.56182358
43Abnormality of the labia minora (HP:0012880)3.43434158
44Concave nail (HP:0001598)3.41829039
45Broad hallux (HP:0010055)3.40728089
46Abnormality of the musculature of the hand (HP:0001421)3.37632983
47Hyperkalemia (HP:0002153)3.34577108
48Abnormality of the musculature of the pelvis (HP:0001469)3.33149551
49Abnormality of the hip-girdle musculature (HP:0001445)3.33149551
50Segmental peripheral demyelination/remyelination (HP:0003481)3.23756845
51Polar cataract (HP:0010696)3.20934401
52Hyperglycinemia (HP:0002154)3.14415814
53Abnormality of the distal phalanges of the toes (HP:0010182)3.13293942
54Progressive muscle weakness (HP:0003323)3.04954265
55Onycholysis (HP:0001806)3.04397831
56Absent radius (HP:0003974)3.02939244
57Difficulty climbing stairs (HP:0003551)3.02806706
58Broad toe (HP:0001837)2.95910101
59Stage 5 chronic kidney disease (HP:0003774)2.94851497
60Flat capital femoral epiphysis (HP:0003370)2.94829466
61Aplasia/Hypoplasia of the patella (HP:0006498)2.92518007
62Entropion (HP:0000621)2.92015131
63Premature rupture of membranes (HP:0001788)2.91683519
64Aplasia involving forearm bones (HP:0009822)2.91001272
65Absent forearm bone (HP:0003953)2.91001272
66Patellar aplasia (HP:0006443)2.89684608
67Hyperglycinuria (HP:0003108)2.84746502
68Areflexia of lower limbs (HP:0002522)2.80842283
69Abnormality of the umbilical cord (HP:0010881)2.76651986
70Hyperactive renin-angiotensin system (HP:0000841)2.76454405
71Abnormality of the proximal phalanges of the hand (HP:0009834)2.76212024
72Ureteral duplication (HP:0000073)2.76107320
73Abnormal trabecular bone morphology (HP:0100671)2.73792049
74Atrioventricular block (HP:0001678)2.73511067
75Premature ovarian failure (HP:0008209)2.71704743
76Sparse lateral eyebrow (HP:0005338)2.71108661
77Ridged nail (HP:0001807)2.66707989
78Irregular epiphyses (HP:0010582)2.60183219
79Hyponatremia (HP:0002902)2.57677131
80Hypoplasia of the ulna (HP:0003022)2.54092593
81Stillbirth (HP:0003826)2.53131669
82Tetraplegia (HP:0002445)2.52367005
83Cheilitis (HP:0100825)2.48404656
84Spinal muscular atrophy (HP:0007269)2.47232689
85Abnormality of the anterior horn cell (HP:0006802)2.44559539
86Degeneration of anterior horn cells (HP:0002398)2.44559539
87Bundle branch block (HP:0011710)2.44476697
88Osteolytic defects of the phalanges of the hand (HP:0009771)2.42378501
89Osteolytic defects of the hand bones (HP:0009699)2.42378501
90Oligodactyly (hands) (HP:0001180)2.41538195
91Increased purine levels (HP:0004368)2.41082726
92Hyperuricemia (HP:0002149)2.41082726
93Vascular calcification (HP:0004934)2.39908968
94Muscle fiber splitting (HP:0003555)2.38043799
95Hematuria (HP:0000790)2.37927969
96Aplasia/hypoplasia of the humerus (HP:0006507)2.37908959
97Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843)2.36235631
98Preaxial foot polydactyly (HP:0001841)2.34570161
99Abnormality of the antihelix (HP:0009738)2.33739597
100Chronic bronchitis (HP:0004469)2.33358453
101Breast aplasia (HP:0100783)2.33343382
102Congenital, generalized hypertrichosis (HP:0004540)2.31972544
103Abnormality of the incisor (HP:0000676)2.31695147
104Megaloblastic anemia (HP:0001889)2.31280415
105Hypoplasia of dental enamel (HP:0006297)2.31045804
106Hypoplasia of the capital femoral epiphysis (HP:0003090)2.30977135
107Cupped ear (HP:0000378)2.30717352
108Trismus (HP:0000211)2.29913411
109Heterochromia iridis (HP:0001100)2.26525368
110Small epiphyses (HP:0010585)2.22948865
111Abnormally folded helix (HP:0008544)2.22927349
112Death in infancy (HP:0001522)2.22573751
113Abnormality of the radial head (HP:0003995)2.22504030
114Oligodactyly (HP:0012165)2.22464867
115Overfolded helix (HP:0000396)2.22375405
116Nail dystrophy (HP:0008404)2.19169933
117Secondary amenorrhea (HP:0000869)2.19024717
118Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.18201218
119Shawl scrotum (HP:0000049)2.17799965
120Sparse eyelashes (HP:0000653)2.17160587
121Aplasia/Hypoplasia of the breasts (HP:0010311)2.16886460
122Aplasia/Hypoplasia involving the musculature (HP:0001460)2.16690366
123Congenital glaucoma (HP:0001087)2.16210737
124Anal stenosis (HP:0002025)2.16148466
125Short humerus (HP:0005792)2.14334337
126Turricephaly (HP:0000262)2.14263220
127Selective tooth agenesis (HP:0001592)2.14097462
128Absent hand (HP:0004050)2.13167924
129Abnormality of serine family amino acid metabolism (HP:0010894)2.12324183
130Abnormality of glycine metabolism (HP:0010895)2.12324183
131Dysautonomia (HP:0002459)2.12258324
132Abnormality of sodium homeostasis (HP:0010931)2.10288647
133Personality changes (HP:0000751)2.08395439
134Absent phalangeal crease (HP:0006109)2.07715818
135Aplasia/Hypoplasia of the ulna (HP:0006495)2.07035312
136Cardiovascular calcification (HP:0011915)2.05817119
137Ankle contracture (HP:0006466)2.05767091
138Abnormality of the middle phalanges of the hand (HP:0009833)2.04659528
139Abnormality of the preputium (HP:0100587)2.03983846
140Exostoses (HP:0100777)2.03530062
141Hypoplasia of the iris (HP:0007676)2.01889863
142Ventricular fibrillation (HP:0001663)2.01805119
143Hyperextensible skin (HP:0000974)1.98479939
144* Corneal dystrophy (HP:0001131)1.98013785
145Fragile nails (HP:0001808)1.97897699
146Hypoplasia of the radius (HP:0002984)1.97799030
147Limited elbow extension (HP:0001377)1.97434940
148Multiple enchondromatosis (HP:0005701)1.97406242
149Vertebral arch anomaly (HP:0008438)1.96690760
150Humeroradial synostosis (HP:0003041)1.95907818
151Synostosis involving the elbow (HP:0003938)1.95907818
152Aplasia/Hypoplasia of the earlobes (HP:0009906)1.95441732
153Hypodontia (HP:0000668)1.95293315
154Pterygium (HP:0001059)1.93779039
155Submucous cleft hard palate (HP:0000176)1.93715827
156Arterial tortuosity (HP:0005116)1.92741812
157CNS hypomyelination (HP:0003429)1.91960839
158Ependymoma (HP:0002888)1.90257609
159Protrusio acetabuli (HP:0003179)1.87563922
160Hypophosphatemia (HP:0002148)1.85682330
161Pili torti (HP:0003777)1.85417653
162Natal tooth (HP:0000695)1.85089171
163Cubitus valgus (HP:0002967)1.85089112
164Glucose intolerance (HP:0000833)1.83478073
165Abnormalities of placenta or umbilical cord (HP:0001194)1.82492695
166Short clavicles (HP:0000894)1.81829220
167Broad distal phalanx of finger (HP:0009836)1.80687685
168Chromosomal breakage induced by crosslinking agents (HP:0003221)1.80510748
169Prolonged neonatal jaundice (HP:0006579)1.79988675
170Urethral obstruction (HP:0000796)1.78158336
171Chromsome breakage (HP:0040012)1.76758721
172Nephrocalcinosis (HP:0000121)1.76260916
173Absent epiphyses (HP:0010577)1.76223767
174Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.76223767
175Stomach cancer (HP:0012126)1.75643495
176Abnormal respiratory epithelium morphology (HP:0012253)1.74856113
177Abnormal respiratory motile cilium morphology (HP:0005938)1.74856113
178Abnormality of serum amino acid levels (HP:0003112)1.74795613
179Abnormal respiratory motile cilium physiology (HP:0012261)1.74097839
180Renal tubular acidosis (HP:0001947)1.72365678
181Bilateral sensorineural hearing impairment (HP:0008619)1.69236352
182Rhinitis (HP:0012384)1.68694230
183Vascular tortuosity (HP:0004948)1.67344181
184Deep venous thrombosis (HP:0002625)1.67249184
185Microdontia (HP:0000691)1.67006907
186Abnormal ciliary motility (HP:0012262)1.63135040
187Abnormal finger flexion creases (HP:0006143)1.61835580
188Increased corneal curvature (HP:0100692)1.61620227
189Keratoconus (HP:0000563)1.61620227
190Nephrotic syndrome (HP:0000100)1.58892682
191Abnormality of primary teeth (HP:0006481)1.53147497
192Anterior segment dysgenesis (HP:0007700)1.50631972
193Absent/shortened dynein arms (HP:0200106)1.48444335
194Dynein arm defect of respiratory motile cilia (HP:0012255)1.48444335
195Patellar dislocation (HP:0002999)1.45728401

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB16.90645687
2EPHA26.77736771
3AKT34.24858472
4WEE14.19407448
5MAPK153.43044049
6MST1R3.40811741
7MOS3.40469474
8TSSK63.37042188
9SMG12.89667241
10TRIB32.78180249
11TGFBR22.71671418
12NTRK12.66685357
13RIPK12.63448462
14PLK42.59874497
15NEK22.45805949
16EPHB12.39842421
17ICK2.37695275
18NEK12.25039040
19PKN22.11070705
20BRSK21.98486903
21EIF2AK11.94579554
22CAMK2B1.94189643
23SIK11.87262862
24GRK71.87076036
25TRPM71.85329293
26PLK11.80373219
27PLK31.76077015
28ACVR1B1.74800491
29TTK1.71917044
30GRK51.63461165
31FGFR21.59455183
32TESK11.59120143
33MAP3K61.52626277
34ZAK1.50328457
35MAP3K91.47252282
36RET1.46923795
37PNCK1.46787219
38STK161.43893283
39DYRK31.40610769
40RPS6KB21.37741446
41LMTK21.33817234
42PIM21.31541596
43PRKCI1.26188893
44BRSK11.24425833
45LATS21.22717747
46MAPKAPK51.19705477
47BMX1.19357374
48PDGFRA1.16695576
49STK31.15470386
50AURKB1.14455367
51EIF2AK31.14283373
52CHEK21.12596966
53FGFR11.09503732
54ALK1.09382055
55MAP3K131.08559520
56ERN11.07752524
57MAP2K21.06964889
58MKNK21.06031645
59CDK71.04468005
60CDK41.04039646
61PDK21.03777089
62MKNK11.02959824
63MAP3K31.02659034
64ARAF1.01079003
65AURKA0.99935468
66MAP3K80.98786683
67PDK40.98604441
68PDK30.98604441
69STK38L0.91120001
70CDC70.88780720
71CSNK1G30.88736633
72PINK10.87861343
73ERBB40.87571125
74CDK120.86646369
75STK100.84692715
76CSNK1A1L0.83855553
77RPS6KA40.83828467
78PAK10.83682885
79NEK60.83245770
80MAP3K110.82163934
81EEF2K0.80402630
82CCNB10.79103804
83BRAF0.76180928
84CHEK10.75506910
85SRPK10.74457000
86NME20.73254931
87PAK40.70567493
88CSNK1G10.67674611
89PTK20.66327284
90DDR20.64270976
91TBK10.63857861
92PDPK10.62842866
93MAP3K20.61366121
94RIPK40.61206682
95KSR20.60914348
96PDK10.60696243
97TESK20.57267584
98FGFR30.57178360
99CDK20.56558743
100FGFR40.56235860
101CSNK1E0.54997706
102PTK60.54120778
103RPS6KL10.53242124
104RPS6KC10.53242124
105ATR0.52735188
106FER0.52390474
107MTOR0.50188427
108IRAK30.49208694
109MAP2K10.48915534
110CSNK1G20.48499373
111WNK30.47624183
112CDK60.47592704
113IRAK20.46602211
114MAP3K10.46297284
115MAPK70.44624929
116DAPK10.44183922
117PIM10.43574147
118WNK40.42340058
119NLK0.42042049
120MARK20.40066520
121CDK90.39850015
122CDK80.39588498
123TAOK10.39410299
124NME10.38784727
125YES10.38578487
126LRRK20.38505460
127TGFBR10.38192154
128PHKG10.37386047
129PHKG20.37386047
130CAMKK20.37134073
131CDK10.36181491
132RPS6KA60.35819205
133MARK30.35756513
134MAP4K10.35533981
135FLT30.35263183
136RPS6KA20.34851242
137IRAK10.34811995
138EPHA30.33726021
139CSNK2A20.33225346
140AKT20.31747909
141PBK0.30609744
142ATM0.30369744
143ROCK20.30028654
144TYRO30.29887646
145RAF10.28713437
146LATS10.28584957
147EIF2AK20.27623102
148CSNK2A10.26327232
149MELK0.26298744
150TAOK20.25599304
151ADRBK10.25415800
152CHUK0.25297080
153HIPK20.22812302
154ILK0.22357009
155CSNK1A10.21875926
156PRKCG0.21265746
157PRKD30.21200195
158STK380.19485960
159PRKAA10.18691514
160MST40.17431404
161DYRK20.17350543
162PAK30.15434370
163PAK20.15278408
164MET0.14131531
165MAPK90.13800069
166BRD40.12557024

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007506.20658585
2Nitrogen metabolism_Homo sapiens_hsa009104.86038634
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030084.37323299
4Folate biosynthesis_Homo sapiens_hsa007904.05053457
5RNA polymerase_Homo sapiens_hsa030203.56195379
6Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005333.42556030
7Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049643.20147233
8RNA transport_Homo sapiens_hsa030133.16408756
9p53 signaling pathway_Homo sapiens_hsa041152.81490932
10Proteasome_Homo sapiens_hsa030502.80786537
11Cell cycle_Homo sapiens_hsa041102.76009711
12Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.74176906
13Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.64824823
14Regulation of autophagy_Homo sapiens_hsa041402.48921948
15Protein digestion and absorption_Homo sapiens_hsa049742.40091125
16Vitamin digestion and absorption_Homo sapiens_hsa049772.28894517
17AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.22807248
18Amoebiasis_Homo sapiens_hsa051462.21995188
19DNA replication_Homo sapiens_hsa030302.15587604
20Spliceosome_Homo sapiens_hsa030402.03112312
21Glycerophospholipid metabolism_Homo sapiens_hsa005641.99829863
22Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.98828073
23Pyrimidine metabolism_Homo sapiens_hsa002401.85796595
24Base excision repair_Homo sapiens_hsa034101.78111377
25Homologous recombination_Homo sapiens_hsa034401.75098825
26Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.73906770
27Pentose phosphate pathway_Homo sapiens_hsa000301.72899154
28Central carbon metabolism in cancer_Homo sapiens_hsa052301.69920944
29Focal adhesion_Homo sapiens_hsa045101.65654003
30Mismatch repair_Homo sapiens_hsa034301.64055383
31Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.62131085
32Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.59778334
33Cysteine and methionine metabolism_Homo sapiens_hsa002701.59301359
34Basal transcription factors_Homo sapiens_hsa030221.57031105
35Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.52650120
36Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.43924424
37Sulfur relay system_Homo sapiens_hsa041221.43119832
38Histidine metabolism_Homo sapiens_hsa003401.42934562
39Oocyte meiosis_Homo sapiens_hsa041141.42351753
40Drug metabolism - other enzymes_Homo sapiens_hsa009831.37452398
41Inositol phosphate metabolism_Homo sapiens_hsa005621.33970592
42Lysine degradation_Homo sapiens_hsa003101.33412517
43Purine metabolism_Homo sapiens_hsa002301.30836213
44Phenylalanine metabolism_Homo sapiens_hsa003601.29891014
45Nucleotide excision repair_Homo sapiens_hsa034201.29187802
46Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.27824064
47Pyruvate metabolism_Homo sapiens_hsa006201.27459107
48Bile secretion_Homo sapiens_hsa049761.26267299
49Biosynthesis of amino acids_Homo sapiens_hsa012301.25080953
50One carbon pool by folate_Homo sapiens_hsa006701.14777244
51Epstein-Barr virus infection_Homo sapiens_hsa051691.13756048
52Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.12909942
53Fanconi anemia pathway_Homo sapiens_hsa034601.11892840
54Glycosaminoglycan degradation_Homo sapiens_hsa005311.09473151
55Ribosome_Homo sapiens_hsa030101.08196290
56Regulation of actin cytoskeleton_Homo sapiens_hsa048101.05047561
57Arginine biosynthesis_Homo sapiens_hsa002200.98192851
58beta-Alanine metabolism_Homo sapiens_hsa004100.95680219
59Other glycan degradation_Homo sapiens_hsa005110.94977475
60Hippo signaling pathway_Homo sapiens_hsa043900.93870814
61Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.93132234
62Hedgehog signaling pathway_Homo sapiens_hsa043400.88853980
63Antigen processing and presentation_Homo sapiens_hsa046120.87804679
64Renal cell carcinoma_Homo sapiens_hsa052110.84555524
65Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.84101207
66Rap1 signaling pathway_Homo sapiens_hsa040150.83392012
67Vibrio cholerae infection_Homo sapiens_hsa051100.80900973
68Small cell lung cancer_Homo sapiens_hsa052220.79465707
69Phosphatidylinositol signaling system_Homo sapiens_hsa040700.74458579
70Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.74250833
71Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.74244535
72Fructose and mannose metabolism_Homo sapiens_hsa000510.73031716
73Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.72601132
74mTOR signaling pathway_Homo sapiens_hsa041500.72119130
75RNA degradation_Homo sapiens_hsa030180.71934489
76Viral carcinogenesis_Homo sapiens_hsa052030.71863512
77Fatty acid degradation_Homo sapiens_hsa000710.71242178
78Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.70040935
79Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.68687142
80Glutathione metabolism_Homo sapiens_hsa004800.67159700
81Circadian rhythm_Homo sapiens_hsa047100.66963948
82Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.66819424
83FoxO signaling pathway_Homo sapiens_hsa040680.63841243
84Tyrosine metabolism_Homo sapiens_hsa003500.62669430
85Fatty acid metabolism_Homo sapiens_hsa012120.61062809
86mRNA surveillance pathway_Homo sapiens_hsa030150.60813438
87Mineral absorption_Homo sapiens_hsa049780.60224214
88Steroid biosynthesis_Homo sapiens_hsa001000.59796948
89Tight junction_Homo sapiens_hsa045300.57999306
90Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.56636113
91Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.56576884
92Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.54928612
93MicroRNAs in cancer_Homo sapiens_hsa052060.54642850
94Choline metabolism in cancer_Homo sapiens_hsa052310.54445872
95Basal cell carcinoma_Homo sapiens_hsa052170.54002837
96Tryptophan metabolism_Homo sapiens_hsa003800.52816318
97HTLV-I infection_Homo sapiens_hsa051660.52476187
98Axon guidance_Homo sapiens_hsa043600.52266286
99N-Glycan biosynthesis_Homo sapiens_hsa005100.52073745
100Longevity regulating pathway - mammal_Homo sapiens_hsa042110.51258586
101Lysosome_Homo sapiens_hsa041420.50975269
1022-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.50297385
103Complement and coagulation cascades_Homo sapiens_hsa046100.50067151
104Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.49722785
105Glycerolipid metabolism_Homo sapiens_hsa005610.49451733
106Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.48814004
107Arachidonic acid metabolism_Homo sapiens_hsa005900.48195958
108Apoptosis_Homo sapiens_hsa042100.48139761
109Renin-angiotensin system_Homo sapiens_hsa046140.47575148
110Selenocompound metabolism_Homo sapiens_hsa004500.47248612
111Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.46365371
112Arginine and proline metabolism_Homo sapiens_hsa003300.46064459
113Ras signaling pathway_Homo sapiens_hsa040140.45789401
114Chronic myeloid leukemia_Homo sapiens_hsa052200.44781704
115Adherens junction_Homo sapiens_hsa045200.42783701
116Endocytosis_Homo sapiens_hsa041440.42586635
117Thyroid cancer_Homo sapiens_hsa052160.42267429
118Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.40966388
119Glucagon signaling pathway_Homo sapiens_hsa049220.40485898
120Chemical carcinogenesis_Homo sapiens_hsa052040.40361924
121Insulin resistance_Homo sapiens_hsa049310.39247697
122Carbon metabolism_Homo sapiens_hsa012000.38583106
123HIF-1 signaling pathway_Homo sapiens_hsa040660.36568200
124Cyanoamino acid metabolism_Homo sapiens_hsa004600.35551803
125Galactose metabolism_Homo sapiens_hsa000520.34531888
126Non-homologous end-joining_Homo sapiens_hsa034500.34060730
127Bladder cancer_Homo sapiens_hsa052190.33941660
128Retinol metabolism_Homo sapiens_hsa008300.32939149
129Herpes simplex infection_Homo sapiens_hsa051680.32729648
130Insulin signaling pathway_Homo sapiens_hsa049100.31108440
131Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.29776139
132Sphingolipid metabolism_Homo sapiens_hsa006000.29190891
133Pathways in cancer_Homo sapiens_hsa052000.28484390
134ErbB signaling pathway_Homo sapiens_hsa040120.27947266
135Fatty acid elongation_Homo sapiens_hsa000620.27774818
136Proteoglycans in cancer_Homo sapiens_hsa052050.27349687
137Starch and sucrose metabolism_Homo sapiens_hsa005000.27328890
138Melanoma_Homo sapiens_hsa052180.26894009
139Huntingtons disease_Homo sapiens_hsa050160.25844163
140Metabolic pathways_Homo sapiens_hsa011000.25191846
141Legionellosis_Homo sapiens_hsa051340.25095067
142Pentose and glucuronate interconversions_Homo sapiens_hsa000400.24443521
143Melanogenesis_Homo sapiens_hsa049160.24264199
144ECM-receptor interaction_Homo sapiens_hsa045120.23894371
145Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.23371059
146TGF-beta signaling pathway_Homo sapiens_hsa043500.19472077
147Prostate cancer_Homo sapiens_hsa052150.18488331
148Leukocyte transendothelial migration_Homo sapiens_hsa046700.18285837
149Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.18055763
150Wnt signaling pathway_Homo sapiens_hsa043100.17247318
151Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.17173437
152AMPK signaling pathway_Homo sapiens_hsa041520.15564050
153PI3K-Akt signaling pathway_Homo sapiens_hsa041510.13331639
154Thyroid hormone signaling pathway_Homo sapiens_hsa049190.13215516
155Notch signaling pathway_Homo sapiens_hsa043300.12539508
156Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.10931511
157Shigellosis_Homo sapiens_hsa051310.10016616
158Acute myeloid leukemia_Homo sapiens_hsa052210.09825013
159Linoleic acid metabolism_Homo sapiens_hsa005910.08397362

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