LRP2

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





Description: The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1aminoglycoside antibiotic metabolic process (GO:0030647)9.79341801
2drug transport (GO:0015893)8.83521929
3phosphate ion transport (GO:0006817)8.69294775
4lysine metabolic process (GO:0006553)8.65305108
5lysine catabolic process (GO:0006554)8.65305108
6organic cation transport (GO:0015695)8.63707952
7phosphate ion transmembrane transport (GO:0035435)7.55784232
8excretion (GO:0007588)6.75178053
9quaternary ammonium group transport (GO:0015697)6.66047475
10cysteine metabolic process (GO:0006534)6.60770065
11response to mercury ion (GO:0046689)6.15266079
12renal absorption (GO:0070293)6.05841842
13drug catabolic process (GO:0042737)5.99619231
14glyoxylate metabolic process (GO:0046487)5.85034616
15tricarboxylic acid metabolic process (GO:0072350)5.72833538
16toxin transport (GO:1901998)5.66508451
17modified amino acid transport (GO:0072337)5.66240958
18metanephric nephron tubule development (GO:0072234)5.60718753
19metanephric tubule development (GO:0072170)5.60718753
20aspartate family amino acid catabolic process (GO:0009068)5.60485544
21exogenous drug catabolic process (GO:0042738)5.52523141
22nonribosomal peptide biosynthetic process (GO:0019184)5.43912549
23trivalent inorganic anion homeostasis (GO:0072506)5.36714869
24phosphate ion homeostasis (GO:0055062)5.36714869
25metanephric nephron epithelium development (GO:0072243)5.19510719
26homocysteine metabolic process (GO:0050667)5.16827627
27amino-acid betaine transport (GO:0015838)4.98410860
28carnitine transport (GO:0015879)4.98410860
29glutathione biosynthetic process (GO:0006750)4.87663313
30vitamin transport (GO:0051180)4.84578742
31short-chain fatty acid metabolic process (GO:0046459)4.84531917
32branched-chain amino acid metabolic process (GO:0009081)4.81752585
33valine metabolic process (GO:0006573)4.78356379
34metanephric epithelium development (GO:0072207)4.76118258
35serine family amino acid metabolic process (GO:0009069)4.75125163
36serine family amino acid catabolic process (GO:0009071)4.61249746
372-oxoglutarate metabolic process (GO:0006103)4.60301487
38lateral sprouting from an epithelium (GO:0060601)4.53092343
39neuronal stem cell maintenance (GO:0097150)4.51520428
40peptide catabolic process (GO:0043171)4.50283994
41fructose metabolic process (GO:0006000)4.49655612
42indole-containing compound catabolic process (GO:0042436)4.46194751
43indolalkylamine catabolic process (GO:0046218)4.46194751
44tryptophan catabolic process (GO:0006569)4.46194751
45proline metabolic process (GO:0006560)4.40063304
46* vitamin D metabolic process (GO:0042359)4.35125054
47amino-acid betaine metabolic process (GO:0006577)4.33515976
48nephron tubule development (GO:0072080)4.30170514
49glycoside metabolic process (GO:0016137)4.29403026
50tryptophan metabolic process (GO:0006568)4.23692313
51fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.20058791
52aromatic amino acid family catabolic process (GO:0009074)4.18647995
53mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)4.17617348
54paraxial mesoderm development (GO:0048339)4.14986960
55cellular modified amino acid catabolic process (GO:0042219)4.13897039
56surfactant homeostasis (GO:0043129)4.11348426
57acetyl-CoA metabolic process (GO:0006084)4.10028190
58polyol transport (GO:0015791)4.09862332
59central nervous system myelination (GO:0022010)4.09440763
60axon ensheathment in central nervous system (GO:0032291)4.09440763
61oligosaccharide catabolic process (GO:0009313)4.06881401
62fatty acid beta-oxidation (GO:0006635)4.00246689
63serine family amino acid biosynthetic process (GO:0009070)3.99693164
64response to phenylpropanoid (GO:0080184)3.96997820
65carnitine metabolic process (GO:0009437)3.94763839
66regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)3.94376899
67branched-chain amino acid catabolic process (GO:0009083)3.93912317
68regulation of non-canonical Wnt signaling pathway (GO:2000050)3.93080027
69cobalamin metabolic process (GO:0009235)3.87071089
70limb bud formation (GO:0060174)3.84963566
71peptide biosynthetic process (GO:0043043)3.83654452
72erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.83329794
73L-phenylalanine metabolic process (GO:0006558)3.83329794
74sulfur compound transport (GO:0072348)3.83267140
75L-ascorbic acid metabolic process (GO:0019852)3.80242711
76notochord development (GO:0030903)3.80085480
77glutamate metabolic process (GO:0006536)3.79018471
78renal tubule development (GO:0061326)3.75287989
79presynaptic membrane organization (GO:0097090)3.73395638
80fatty acid oxidation (GO:0019395)3.71305216
81sodium-independent organic anion transport (GO:0043252)3.71008706
82pyrimidine nucleobase catabolic process (GO:0006208)3.69246684
83regulation of hippo signaling (GO:0035330)3.66059181
84lung-associated mesenchyme development (GO:0060484)3.65909634
85erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.65775993
86L-phenylalanine catabolic process (GO:0006559)3.65775993
87lipid oxidation (GO:0034440)3.63476367
88kynurenine metabolic process (GO:0070189)3.62833975
89planar cell polarity pathway involved in neural tube closure (GO:0090179)3.61897687
90appendage development (GO:0048736)3.61579629
91limb development (GO:0060173)3.61579629
92presynaptic membrane assembly (GO:0097105)3.60337751
93retinal ganglion cell axon guidance (GO:0031290)3.54693929
94folic acid metabolic process (GO:0046655)3.52556818
95axonal fasciculation (GO:0007413)3.51583907
96response to growth hormone (GO:0060416)3.51040323
97nephron epithelium development (GO:0072009)3.44412405
98convergent extension (GO:0060026)3.42268981
99glutathione derivative biosynthetic process (GO:1901687)3.39269458
100glutathione derivative metabolic process (GO:1901685)3.39269458
101response to parathyroid hormone (GO:0071107)3.38523542
102dorsal/ventral axis specification (GO:0009950)3.37469872
103regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.37083724
104cellular amino acid catabolic process (GO:0009063)3.35709902
105cellular response to vitamin D (GO:0071305)3.33724634
106sodium ion transport (GO:0006814)3.33399120
107apical protein localization (GO:0045176)3.29585005
108nephron tubule morphogenesis (GO:0072078)3.28049231
109nephron epithelium morphogenesis (GO:0072088)3.28049231
110cellular ketone body metabolic process (GO:0046950)3.27608399
111alpha-amino acid catabolic process (GO:1901606)3.27399490
112NADH metabolic process (GO:0006734)3.24654993
113folic acid transport (GO:0015884)3.22287587
114glutathione metabolic process (GO:0006749)3.20416113
115negative regulation of astrocyte differentiation (GO:0048712)3.19473430
116establishment of nucleus localization (GO:0040023)3.17420612
117indole-containing compound metabolic process (GO:0042430)3.17228909
118biotin metabolic process (GO:0006768)3.16657702
119dicarboxylic acid metabolic process (GO:0043648)3.15904853
120fatty acid catabolic process (GO:0009062)3.15536895
121aromatic amino acid family metabolic process (GO:0009072)3.15323833
122mesenchymal to epithelial transition (GO:0060231)3.10683973
123vitamin transmembrane transport (GO:0035461)3.09318295
124hyperosmotic salinity response (GO:0042538)3.07083484
125branching involved in salivary gland morphogenesis (GO:0060445)3.02221174
126cell proliferation in forebrain (GO:0021846)3.01011426
127neuron recognition (GO:0008038)2.99526710
128establishment of tissue polarity (GO:0007164)2.98968410
129establishment of planar polarity (GO:0001736)2.98968410
130postsynaptic membrane organization (GO:0001941)2.95949243
131establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)2.95188064
132somite development (GO:0061053)2.94345977
133lens fiber cell development (GO:0070307)2.94270412
134nephron tubule formation (GO:0072079)2.93934872
135embryonic retina morphogenesis in camera-type eye (GO:0060059)2.93832994
136neuron projection extension involved in neuron projection guidance (GO:1902284)2.90811667
137axon extension involved in axon guidance (GO:0048846)2.90811667
138asymmetric protein localization (GO:0008105)2.90054553
139Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.86569163
140nonmotile primary cilium assembly (GO:0035058)2.86329171
141radial glial cell differentiation (GO:0060019)2.85916127
142cell surface receptor signaling pathway involved in heart development (GO:0061311)2.85152172
143negative chemotaxis (GO:0050919)2.83912674
144camera-type eye morphogenesis (GO:0048593)2.83426358
145non-canonical Wnt signaling pathway (GO:0035567)2.83350248
146calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.82660947
147olfactory bulb development (GO:0021772)2.82009964
148cranial nerve development (GO:0021545)2.81717533
149nucleobase catabolic process (GO:0046113)2.79317502
150ephrin receptor signaling pathway (GO:0048013)2.78962978
151cell migration in hindbrain (GO:0021535)2.78912117
152epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.77128154
153cardiovascular system development (GO:0072358)2.76581698
154pre-miRNA processing (GO:0031054)2.75512872
155regulation of establishment of planar polarity (GO:0090175)2.74740164
156G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.74533578
157glomerulus development (GO:0032835)2.74192322
158genitalia morphogenesis (GO:0035112)2.72838802
159negative regulation of glial cell differentiation (GO:0045686)2.70717003
160negative regulation of axon guidance (GO:1902668)2.70698508
161spinal cord development (GO:0021510)2.69472193
162inner ear morphogenesis (GO:0042472)2.66577857
163short-term memory (GO:0007614)2.65606215
164pattern specification involved in kidney development (GO:0061004)2.65566315
165morphogenesis of an epithelial sheet (GO:0002011)2.64072237
166negative regulation of oligodendrocyte differentiation (GO:0048715)2.59747198
167cerebral cortex radially oriented cell migration (GO:0021799)2.58665433
168otic vesicle formation (GO:0030916)2.56213240
169central nervous system projection neuron axonogenesis (GO:0021952)2.53969303
170regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.52056979
171neuron fate determination (GO:0048664)2.50672392
172embryonic foregut morphogenesis (GO:0048617)2.45887195
173hippo signaling (GO:0035329)2.44075213
174regulation of astrocyte differentiation (GO:0048710)2.43666797
175midbrain development (GO:0030901)2.42177270
176gastrulation with mouth forming second (GO:0001702)2.41602801
177intraciliary transport (GO:0042073)2.40708710
178positive regulation of mesonephros development (GO:0061213)2.39715436
179positive regulation of neuroblast proliferation (GO:0002052)2.38798499
180regulation of gene silencing by RNA (GO:0060966)2.38767579
181regulation of posttranscriptional gene silencing (GO:0060147)2.38767579
182regulation of gene silencing by miRNA (GO:0060964)2.38767579
183pituitary gland development (GO:0021983)2.38647226
184auditory receptor cell differentiation (GO:0042491)2.37277907
185negative regulation of axon extension involved in axon guidance (GO:0048843)2.36682284
186cell-cell signaling involved in cell fate commitment (GO:0045168)2.34775074
187tongue development (GO:0043586)2.34652736
188developmental induction (GO:0031128)2.33839962
189transmission of nerve impulse (GO:0019226)2.32746854
190collecting duct development (GO:0072044)2.32190986
191positive regulation of catenin import into nucleus (GO:0035413)2.31547935
192cerebral cortex development (GO:0021987)2.31315360
193thyroid hormone generation (GO:0006590)2.31291304
194artery development (GO:0060840)2.31282831
195inner ear receptor stereocilium organization (GO:0060122)2.31227048
196urate metabolic process (GO:0046415)10.8514709
197drug transmembrane transport (GO:0006855)10.2058850

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse4.78676930
2ESR1_21235772_ChIP-Seq_MCF-7_Human4.44909002
3AR_21909140_ChIP-Seq_LNCAP_Human4.32696854
4EZH2_22144423_ChIP-Seq_EOC_Human4.09492245
5RXR_22158963_ChIP-Seq_LIVER_Mouse3.87619679
6TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.75253753
7ZFP322A_24550733_ChIP-Seq_MESCs_Mouse3.68402274
8PPARA_22158963_ChIP-Seq_LIVER_Mouse3.49013442
9PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.31746491
10RBPJ_22232070_ChIP-Seq_NCS_Mouse3.13938603
11LXR_22158963_ChIP-Seq_LIVER_Mouse2.96876141
12* HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.76250050
13NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.75724474
14CLOCK_20551151_ChIP-Seq_293T_Human2.75453331
15TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.69601560
16GBX2_23144817_ChIP-Seq_PC3_Human2.66659139
17FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.65915892
18ESR2_21235772_ChIP-Seq_MCF-7_Human2.64112304
19TRIM28_21343339_ChIP-Seq_HEK293_Human2.61661315
20RARG_19884340_ChIP-ChIP_MEFs_Mouse2.58891055
21CHD7_19251738_ChIP-ChIP_MESCs_Mouse2.49809063
22POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.39971854
23NR0B1_18358816_ChIP-ChIP_MESCs_Mouse2.37444226
24ZIC3_20872845_ChIP-ChIP_MESCs_Mouse2.37180670
25STAT3_1855785_ChIP-Seq_MESCs_Mouse2.36115930
26CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.35824207
27TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.29825009
28TAF15_26573619_Chip-Seq_HEK293_Human2.26819405
29SALL4_18804426_ChIP-ChIP_XEN_Mouse2.24802710
30TCF3_18692474_ChIP-Seq_MEFs_Mouse2.14764288
31RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.09687738
32CDX2_20551321_ChIP-Seq_CACO-2_Human2.04247434
33EZH2_27304074_Chip-Seq_ESCs_Mouse2.02782074
34CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.01708483
35SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse2.01287443
36CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.97956863
37GATA4_25053715_ChIP-Seq_YYC3_Human1.97737941
38HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.97112466
39CBX2_27304074_Chip-Seq_ESCs_Mouse1.94379572
40FUS_26573619_Chip-Seq_HEK293_Human1.91465702
41P300_19829295_ChIP-Seq_ESCs_Human1.90065033
42* JARID2_20064375_ChIP-Seq_MESCs_Mouse1.89280947
43ZFP57_27257070_Chip-Seq_ESCs_Mouse1.88255358
44RNF2_27304074_Chip-Seq_NSC_Mouse1.86801002
45RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.85328998
46EED_16625203_ChIP-ChIP_MESCs_Mouse1.84996795
47RNF2_27304074_Chip-Seq_ESCs_Mouse1.83744123
48PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.81875177
49VDR_22108803_ChIP-Seq_LS180_Human1.80892015
50PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.80518834
51PIAS1_25552417_ChIP-Seq_VCAP_Human1.80500754
52ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.80042335
53POU5F1_16153702_ChIP-ChIP_HESCs_Human1.77050280
54SOX2_27498859_Chip-Seq_STOMACH_Mouse1.76752617
55CTBP2_25329375_ChIP-Seq_LNCAP_Human1.75534890
56TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.73686387
57SALL1_21062744_ChIP-ChIP_HESCs_Human1.73386925
58SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.73311136
59TP63_17297297_ChIP-ChIP_HaCaT_Human1.70440102
60* GATA6_25053715_ChIP-Seq_YYC3_Human1.70212366
61CTBP1_25329375_ChIP-Seq_LNCAP_Human1.70190427
62SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.68149565
63NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.65834754
64TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.63158534
65NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.62552313
66EWS_26573619_Chip-Seq_HEK293_Human1.61907024
67MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.61693954
68NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.60456940
69SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.60365994
70SMAD3_21741376_ChIP-Seq_EPCs_Human1.59028385
71* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.57187466
72* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.57187466
73RACK7_27058665_Chip-Seq_MCF-7_Human1.55860501
74FOXO3_23340844_ChIP-Seq_DLD1_Human1.55818857
75ISL1_27105846_Chip-Seq_CPCs_Mouse1.54939918
76STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.53833363
77HNF4A_19822575_ChIP-Seq_HepG2_Human1.52814937
78SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.52120994
79* SOX2_18692474_ChIP-Seq_MEFs_Mouse1.51886235
80STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.50726727
81AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.50708758
82* NANOG_18692474_ChIP-Seq_MEFs_Mouse1.48937026
83POU3F2_20337985_ChIP-ChIP_501MEL_Human1.47321135
84* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.46582879
85PPAR_26484153_Chip-Seq_NCI-H1993_Human1.45594999
86SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.42847898
87SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.42167860
88NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.41295579
89BMI1_23680149_ChIP-Seq_NPCS_Mouse1.41245451
90ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.40058266
91TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.39366320
92POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.39366320
93JARID2_20075857_ChIP-Seq_MESCs_Mouse1.39047238
94* SMAD4_21799915_ChIP-Seq_A2780_Human1.37698523
95TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.36647630
96SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.36160566
97* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.35943639
98TOP2B_26459242_ChIP-Seq_MCF-7_Human1.35884742
99GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.35765624
100NANOG_18555785_ChIP-Seq_MESCs_Mouse1.35460743
101* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.35426945
102FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.33568896
103EGR1_23403033_ChIP-Seq_LIVER_Mouse1.32904856
104HIF1A_21447827_ChIP-Seq_MCF-7_Human1.32532964
105SOX2_18555785_ChIP-Seq_MESCs_Mouse1.31943911
106EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.31609611
107* SOX2_16153702_ChIP-ChIP_HESCs_Human1.29616715
108ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.29437781
109KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.29171906
110SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.29077536
111* RING1B_27294783_Chip-Seq_ESCs_Mouse1.28651393
112IGF1R_20145208_ChIP-Seq_DFB_Human1.28324058
113RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.27528081
114EP300_21415370_ChIP-Seq_HL-1_Mouse1.26600327
115TCF3_18692474_ChIP-Seq_MESCs_Mouse1.26485583
116* CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.26302642
117AHR_22903824_ChIP-Seq_MCF-7_Human1.25310756
118EZH2_27294783_Chip-Seq_ESCs_Mouse1.24878115
119ZNF274_21170338_ChIP-Seq_K562_Hela1.24636200
120* KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.24526519
121* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.23497712
122* SOX2_18692474_ChIP-Seq_MESCs_Mouse1.23466981
123NR3C1_21868756_ChIP-Seq_MCF10A_Human1.23347431
124KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.23223394
125NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.22623469
126* SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.22390433
127E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.21699041
128UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.20782100
129* TBX3_20139965_ChIP-Seq_MESCs_Mouse1.20667397
130HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.20626292
131GATA1_26923725_Chip-Seq_HPCs_Mouse1.20463086
132* TBX3_20139965_ChIP-Seq_ESCs_Mouse1.19659626
133KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.19104111
134YAP1_20516196_ChIP-Seq_MESCs_Mouse1.18340765
135CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18303616
136SOX9_26525672_Chip-Seq_HEART_Mouse1.17993586
137WT1_19549856_ChIP-ChIP_CCG9911_Human1.17491386
138STAT3_23295773_ChIP-Seq_U87_Human1.16898202
139FOXA2_19822575_ChIP-Seq_HepG2_Human1.16665815
140SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.16574765
141EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.16501196
142* TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.16498966
143ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.15381405
144IRF1_19129219_ChIP-ChIP_H3396_Human1.15189095
145RUNX2_22187159_ChIP-Seq_PCA_Human1.14669001
146GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.14320751
147NANOG_16518401_ChIP-PET_MESCs_Mouse1.13986665
148ZNF217_24962896_ChIP-Seq_MCF-7_Human1.12464959
149* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.11736453
150IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.11241043
151CBP_20019798_ChIP-Seq_JUKART_Human1.11241043
152ATF3_27146783_Chip-Seq_COLON_Human1.11088664
153WT1_25993318_ChIP-Seq_PODOCYTE_Human1.10947556
154POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.10681608
155ARNT_22903824_ChIP-Seq_MCF-7_Human1.10066112
156ZNF263_19887448_ChIP-Seq_K562_Human1.10008164
157CDX2_19796622_ChIP-Seq_MESCs_Mouse1.09999358
158SMAD3_21741376_ChIP-Seq_HESCs_Human1.08576258
159* NANOG_18692474_ChIP-Seq_MESCs_Mouse1.08418740
160AR_25329375_ChIP-Seq_VCAP_Human1.07780121
161TP53_18474530_ChIP-ChIP_U2OS_Human1.07382989
162LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07237317
163* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.07086635
164REST_21632747_ChIP-Seq_MESCs_Mouse1.06137336
165SMAD4_21741376_ChIP-Seq_HESCs_Human1.05966634
166TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.05668429
167* RING1B_27294783_Chip-Seq_NPCs_Mouse1.05555065
168SOX17_20123909_ChIP-Seq_XEN_Mouse1.04976540
169CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.04139584
170GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.03364782
171KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.01062671
172KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.01062671
173KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.01062671
174TBX20_22080862_ChIP-Seq_HEART_Mouse0.99568393
175TBX20_22328084_ChIP-Seq_HEART_Mouse0.99568393
176* OCT4_18692474_ChIP-Seq_MEFs_Mouse0.98288991
177POU5F1_16518401_ChIP-PET_MESCs_Mouse0.97707672
178SOX2_20726797_ChIP-Seq_SW620_Human0.95594642
179AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.94056242
180RXR_22108803_ChIP-Seq_LS180_Human0.92832489
181LXR_22292898_ChIP-Seq_THP-1_Human0.90951494
182PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.86710034
183FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.85666022
184GATA3_24758297_ChIP-Seq_MCF-7_Human0.85555691
185P300_27058665_Chip-Seq_ZR-75-30cells_Human0.85528852
186FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.84881226
187SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.84731676
188ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.84688793
189TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.84400720
190EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.84343170
191CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.82293755
192CDX2_22108803_ChIP-Seq_LS180_Human0.81809901
193RUNX1_27514584_Chip-Seq_MCF-7_Human0.79168863

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis7.45352840
2MP0004043_abnormal_pH_regulation6.53259569
3MP0005332_abnormal_amino_acid4.86558777
4* MP0004019_abnormal_vitamin_homeostasis4.68533388
5MP0003195_calcinosis4.34812009
6MP0002138_abnormal_hepatobiliary_system4.31724841
7* MP0009643_abnormal_urine_homeostasis3.97397864
8MP0002139_abnormal_hepatobiliary_system3.71398640
9MP0001756_abnormal_urination3.48378029
10MP0000566_synostosis3.41122936
11* MP0001765_abnormal_ion_homeostasis3.40943647
12* MP0002136_abnormal_kidney_physiology3.13765632
13MP0003136_yellow_coat_color3.02891495
14MP0010030_abnormal_orbit_morphology2.91524653
15MP0006292_abnormal_olfactory_placode2.79490500
16MP0003122_maternal_imprinting2.72750397
17* MP0005636_abnormal_mineral_homeostasis2.69874018
18* MP0000778_abnormal_nervous_system2.58998787
19* MP0001293_anophthalmia2.53565465
20MP0005248_abnormal_Harderian_gland2.52876034
21MP0002938_white_spotting2.38799540
22MP0008875_abnormal_xenobiotic_pharmacok2.38545901
23MP0004264_abnormal_extraembryonic_tissu2.27112094
24MP0003252_abnormal_bile_duct2.26090718
25MP0005058_abnormal_lysosome_morphology2.12431994
26MP0000383_abnormal_hair_follicle2.05533756
27MP0003937_abnormal_limbs/digits/tail_de1.96596091
28MP0001346_abnormal_lacrimal_gland1.96361563
29MP0003938_abnormal_ear_development1.95515047
30MP0005365_abnormal_bile_salt1.93911031
31MP0003880_abnormal_central_pattern1.82715657
32MP0002233_abnormal_nose_morphology1.82071839
33MP0004272_abnormal_basement_membrane1.77895533
34MP0001286_abnormal_eye_development1.76428571
35MP0003186_abnormal_redox_activity1.71309933
36MP0008961_abnormal_basal_metabolism1.69720208
37MP0010234_abnormal_vibrissa_follicle1.66491741
38MP0000538_abnormal_urinary_bladder1.63465380
39* MP0001958_emphysema1.63274092
40MP0006072_abnormal_retinal_apoptosis1.62317084
41MP0004859_abnormal_synaptic_plasticity1.62191282
42MP0001486_abnormal_startle_reflex1.61332268
43MP0002168_other_aberrant_phenotype1.60762779
44MP0003283_abnormal_digestive_organ1.59234970
45MP0002653_abnormal_ependyma_morphology1.58133120
46MP0005085_abnormal_gallbladder_physiolo1.57318172
47MP0000647_abnormal_sebaceous_gland1.55891488
48MP0004885_abnormal_endolymph1.53609918
49MP0000631_abnormal_neuroendocrine_gland1.53506985
50MP0003300_gastrointestinal_ulcer1.49636792
51MP0001299_abnormal_eye_distance/1.46001773
52MP0010678_abnormal_skin_adnexa1.45765003
53MP0000049_abnormal_middle_ear1.44862634
54MP0003941_abnormal_skin_development1.41603987
55MP0005253_abnormal_eye_physiology1.40952763
56* MP0000026_abnormal_inner_ear1.40664204
57MP0003121_genomic_imprinting1.39950413
58MP0005084_abnormal_gallbladder_morpholo1.39906864
59MP0002928_abnormal_bile_duct1.39834787
60* MP0005391_vision/eye_phenotype1.37881081
61MP0000428_abnormal_craniofacial_morphol1.37184885
62MP0003806_abnormal_nucleotide_metabolis1.35376018
63* MP0002092_abnormal_eye_morphology1.35163537
64MP0001984_abnormal_olfaction1.34938749
65MP0003567_abnormal_fetal_cardiomyocyte1.34299004
66* MP0003861_abnormal_nervous_system1.30935551
67* MP0002135_abnormal_kidney_morphology1.29931592
68MP0004270_analgesia1.29470743
69MP0008789_abnormal_olfactory_epithelium1.28168450
70MP0005394_taste/olfaction_phenotype1.25772040
71MP0005499_abnormal_olfactory_system1.25772040
72MP0002184_abnormal_innervation1.25440872
73MP0000955_abnormal_spinal_cord1.25194967
74MP0005171_absent_coat_pigmentation1.23862951
75MP0002638_abnormal_pupillary_reflex1.22324002
76MP0003385_abnormal_body_wall1.21743240
77MP0002557_abnormal_social/conspecific_i1.21274301
78MP0003755_abnormal_palate_morphology1.21076523
79MP0005423_abnormal_somatic_nervous1.20991965
80* MP0003878_abnormal_ear_physiology1.20842701
81* MP0005377_hearing/vestibular/ear_phenot1.20842701
82MP0002736_abnormal_nociception_after1.20110541
83MP0005451_abnormal_body_composition1.19789876
84MP0005670_abnormal_white_adipose1.19699636
85MP0004742_abnormal_vestibular_system1.19038125
86MP0002876_abnormal_thyroid_physiology1.18622048
87MP0002752_abnormal_somatic_nervous1.18402072
88MP0005195_abnormal_posterior_eye1.18269889
89* MP0002152_abnormal_brain_morphology1.16685655
90MP0005187_abnormal_penis_morphology1.13275411
91* MP0001963_abnormal_hearing_physiology1.12143664
92MP0005319_abnormal_enzyme/_coenzyme1.12060804
93MP0005551_abnormal_eye_electrophysiolog1.11154153
94MP0006276_abnormal_autonomic_nervous1.09940246
95MP0002111_abnormal_tail_morphology1.07973981
96MP0005395_other_phenotype1.04894758
97MP0005666_abnormal_adipose_tissue1.03495099
98MP0002734_abnormal_mechanical_nocicepti1.03032919
99MP0002882_abnormal_neuron_morphology1.02250046
100MP0000516_abnormal_urinary_system1.02203722
101MP0005367_renal/urinary_system_phenotyp1.02203722
102MP0003890_abnormal_embryonic-extraembry1.01478730
103MP0003935_abnormal_craniofacial_develop0.99573352
104MP0001661_extended_life_span0.99039755
105MP0001529_abnormal_vocalization0.99028475
106* MP0005584_abnormal_enzyme/coenzyme_acti0.98856255
107MP0001502_abnormal_circadian_rhythm0.97724045
108MP0000230_abnormal_systemic_arterial0.97673483
109MP0002796_impaired_skin_barrier0.96011832
110MP0003191_abnormal_cellular_cholesterol0.94159562
111MP0000537_abnormal_urethra_morphology0.93366482
112MP0002234_abnormal_pharynx_morphology0.92844264
113MP0002089_abnormal_postnatal_growth/wei0.92395434
114MP0001764_abnormal_homeostasis0.91464490
115MP0005646_abnormal_pituitary_gland0.90380221
116MP0001968_abnormal_touch/_nociception0.89824983
117MP0002572_abnormal_emotion/affect_behav0.89165782
118MP0004858_abnormal_nervous_system0.87822895
119MP0002249_abnormal_larynx_morphology0.87598100
120MP0002063_abnormal_learning/memory/cond0.86969662
121MP0002909_abnormal_adrenal_gland0.86018721
122MP0003632_abnormal_nervous_system0.85846540
123MP0002932_abnormal_joint_morphology0.85635134
124MP0005197_abnormal_uvea_morphology0.85480069
125MP0000579_abnormal_nail_morphology0.85120343
126MP0000427_abnormal_hair_cycle0.83357497
127* MP0002116_abnormal_craniofacial_bone0.83293362
128MP0003635_abnormal_synaptic_transmissio0.83215960
129MP0000534_abnormal_ureter_morphology0.83028012
130MP0006036_abnormal_mitochondrial_physio0.82501257
131MP0001666_abnormal_nutrient_absorption0.82248807
132MP0004142_abnormal_muscle_tone0.81328461
133MP0003315_abnormal_perineum_morphology0.81164799
134MP0009672_abnormal_birth_weight0.80345629
135MP0000569_abnormal_digit_pigmentation0.80192587
136MP0004782_abnormal_surfactant_physiolog0.79838445
137MP0002098_abnormal_vibrissa_morphology0.77000307
138MP0003705_abnormal_hypodermis_morpholog0.76666702
139MP0005501_abnormal_skin_physiology0.76139348
140* MP0002896_abnormal_bone_mineralization0.75157333
141MP0004133_heterotaxia0.70025118
142MP0003566_abnormal_cell_adhesion0.69967827
143MP0000371_diluted_coat_color0.68861154
144MP0002118_abnormal_lipid_homeostasis0.67426345
145MP0009053_abnormal_anal_canal0.64103885
146MP0005220_abnormal_exocrine_pancreas0.63461355
147MP0004147_increased_porphyrin_level0.60165487
148MP0002084_abnormal_developmental_patter0.58790956
149MP0010329_abnormal_lipoprotein_level0.58544292
150* MP0009642_abnormal_blood_homeostasis0.57958853
151MP0003172_abnormal_lysosome_physiology0.55757040
152MP0005535_abnormal_body_temperature0.55386094
153MP0002115_abnormal_skeleton_extremities0.54522411
154MP0009703_decreased_birth_body0.54375096
155MP0000598_abnormal_liver_morphology0.54122140
156MP0005408_hypopigmentation0.53951056
157MP0000678_abnormal_parathyroid_gland0.53751900
158MP0001730_embryonic_growth_arrest0.50278434
159MP0004957_abnormal_blastocyst_morpholog0.48637685
160MP0003646_muscle_fatigue0.48229880
161MP0001485_abnormal_pinna_reflex0.47592276
162MP0003959_abnormal_lean_body0.45547110
163MP0003795_abnormal_bone_structure0.45444755
164MP0000609_abnormal_liver_physiology0.45369586
165MP0001915_intracranial_hemorrhage0.45072578
166MP0003942_abnormal_urinary_system0.44841769
167MP0002086_abnormal_extraembryonic_tissu0.44536914
168MP0000747_muscle_weakness0.44486942
169MP0003984_embryonic_growth_retardation0.43376239
170MP0002088_abnormal_embryonic_growth/wei0.43200942
171MP0004233_abnormal_muscle_weight0.42905971
172MP0003786_premature_aging0.41167003
173MP0005375_adipose_tissue_phenotype0.40323953
174MP0000163_abnormal_cartilage_morphology0.39818141
175MP0001672_abnormal_embryogenesis/_devel0.39376007
176MP0005380_embryogenesis_phenotype0.39376007
177MP0003221_abnormal_cardiomyocyte_apopto0.38961224
178* MP0002697_abnormal_eye_size0.37776307
179* MP0001697_abnormal_embryo_size0.36989820
180MP0000377_abnormal_hair_follicle0.36452487
181MP0003115_abnormal_respiratory_system0.36309131
182MP0003119_abnormal_digestive_system0.36194581

Predicted human phenotypes

RankGene SetZ-score
1Increased circulating renin level (HP:0000848)8.36222520
2Hypokalemic alkalosis (HP:0001949)7.58493581
3Hyperactive renin-angiotensin system (HP:0000841)7.45289630
4Hypomagnesemia (HP:0002917)7.43822792
5Metabolic alkalosis (HP:0200114)7.39273476
6Polyuria (HP:0000103)6.84379027
7Gout (HP:0001997)6.81428922
8Abnormality of chloride homeostasis (HP:0011422)6.51802386
9Abnormal urine output (HP:0012590)6.44131325
10Abnormality of magnesium homeostasis (HP:0004921)6.26685494
11Abnormality of renal excretion (HP:0011036)6.14989868
12Abnormal drinking behavior (HP:0030082)5.55573137
13Polydipsia (HP:0001959)5.55573137
14Tetany (HP:0001281)5.42647791
15Renal salt wasting (HP:0000127)5.23237417
16Abnormality of renin-angiotensin system (HP:0000847)5.01659597
17Hyperuricemia (HP:0002149)4.98829739
18Increased purine levels (HP:0004368)4.98829739
19Hyperaldosteronism (HP:0000859)4.90354779
20Hyperglycinuria (HP:0003108)4.71418187
21Alkalosis (HP:0001948)4.68487478
22Abnormality of glutamine family amino acid metabolism (HP:0010902)4.64069304
23Hypercalciuria (HP:0002150)4.25052074
24Abnormality of purine metabolism (HP:0004352)4.18454808
25Vitreoretinal degeneration (HP:0000655)4.13429668
26* Proximal tubulopathy (HP:0000114)3.88317397
27Hypokalemia (HP:0002900)3.81627315
28Abnormality of glycine metabolism (HP:0010895)3.81203780
29Abnormality of serine family amino acid metabolism (HP:0010894)3.81203780
30Renal tubular acidosis (HP:0001947)3.53898460
31Generalized aminoaciduria (HP:0002909)3.52019630
32Abnormality of the ischium (HP:0003174)3.47964675
33Anophthalmia (HP:0000528)3.43660102
34Glycosuria (HP:0003076)3.41998394
35Abnormality of urine glucose concentration (HP:0011016)3.41998394
36Cutaneous finger syndactyly (HP:0010554)3.20946689
37Delayed epiphyseal ossification (HP:0002663)3.18971426
38Morphological abnormality of the middle ear (HP:0008609)3.18736062
39Abnormality of potassium homeostasis (HP:0011042)3.15534802
40Abnormality of nucleobase metabolism (HP:0010932)3.14793677
41Ketoacidosis (HP:0001993)3.12491280
42Nephrocalcinosis (HP:0000121)3.07385734
43Hydroxyprolinuria (HP:0003080)3.02731994
44Abnormality of proline metabolism (HP:0010907)3.02731994
45Hyperphosphaturia (HP:0003109)3.00965522
46Neonatal short-limb short stature (HP:0008921)2.89563485
47Abnormal urine phosphate concentration (HP:0012599)2.88734475
48Hypoplastic ischia (HP:0003175)2.88607519
49Confusion (HP:0001289)2.85836356
50Cutaneous syndactyly (HP:0012725)2.78896737
51Metaphyseal cupping (HP:0003021)2.74194468
52Septo-optic dysplasia (HP:0100842)2.73678466
53Bifid tongue (HP:0010297)2.73537447
54Nephrolithiasis (HP:0000787)2.70426265
55Abnormality of aspartate family amino acid metabolism (HP:0010899)2.68712256
56Abnormality of the phalanges of the 2nd finger (HP:0009541)2.62645341
57Hyperglycinemia (HP:0002154)2.60818564
58Abnormality of fatty-acid metabolism (HP:0004359)2.60475614
59Widely patent fontanelles and sutures (HP:0004492)2.59796799
60Tubulointerstitial fibrosis (HP:0005576)2.59638461
61Renal hypoplasia (HP:0000089)2.58827148
62Ketosis (HP:0001946)2.57279741
63Facial shape deformation (HP:0011334)2.56449870
64Potter facies (HP:0002009)2.56449870
65Tubular atrophy (HP:0000092)2.55735804
66Hypoplastic pelvis (HP:0008839)2.54148171
67Abnormality of sodium homeostasis (HP:0010931)2.51740883
68Vascular calcification (HP:0004934)2.50684342
69Hyponatremia (HP:0002902)2.50168596
70Dehydration (HP:0001944)2.48807465
71Rickets (HP:0002748)2.47466749
72Enlarged kidneys (HP:0000105)2.47455676
73Bilateral microphthalmos (HP:0007633)2.45215225
74Esophageal atresia (HP:0002032)2.44091851
75Delayed CNS myelination (HP:0002188)2.43871059
76Hypophosphatemia (HP:0002148)2.41752286
77Broad thumb (HP:0011304)2.39048688
78Myelomeningocele (HP:0002475)2.38964213
79Hypoplasia of the ulna (HP:0003022)2.33523259
80Vaginal atresia (HP:0000148)2.33148331
81Renal dysplasia (HP:0000110)2.28837646
82Short 4th metacarpal (HP:0010044)2.28270990
83Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.28270990
84Vacuolated lymphocytes (HP:0001922)2.26116261
85Chondrocalcinosis (HP:0000934)2.26072116
86Genital tract atresia (HP:0001827)2.26021865
87Thyroid-stimulating hormone excess (HP:0002925)2.25467598
88Cardiovascular calcification (HP:0011915)2.24927317
89Abnormality of the pubic bones (HP:0003172)2.23934921
90Hepatoblastoma (HP:0002884)2.22283493
91Thin bony cortex (HP:0002753)2.22019609
92Chronic hepatic failure (HP:0100626)2.17470065
93Synostosis of carpal bones (HP:0005048)2.17223867
94Bilateral sensorineural hearing impairment (HP:0008619)2.17006756
95Abnormality of cochlea (HP:0000375)2.15006236
96Malnutrition (HP:0004395)2.13163710
97Abnormality of sulfur amino acid metabolism (HP:0004339)2.13142165
98Abnormality of Sharpey fibers (HP:0100685)2.11033539
99Irregular epiphyses (HP:0010582)2.10697085
100Morphological abnormality of the inner ear (HP:0011390)2.09215693
101Abnormality of the renal medulla (HP:0100957)2.08857795
102Midline defect of the nose (HP:0004122)2.08200419
103Partial duplication of thumb phalanx (HP:0009944)2.07583650
104Pancreatic cysts (HP:0001737)2.07393399
105Adrenal overactivity (HP:0002717)2.06926927
106Hyperammonemia (HP:0001987)2.06327674
107Preaxial foot polydactyly (HP:0001841)2.06262229
108Hemivertebrae (HP:0002937)2.05710861
109Renal tubular dysfunction (HP:0000124)2.04680017
110Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.04009541
111Aplasia/Hypoplasia of the sternum (HP:0006714)2.03788407
112Abnormality of the diencephalon (HP:0010662)2.03442942
113Glomerulosclerosis (HP:0000096)2.02876968
114Choanal stenosis (HP:0000452)2.02398536
115Abnormality of the proximal phalanges of the hand (HP:0009834)2.01852265
116Aplasia/Hypoplasia of the ulna (HP:0006495)2.01768998
117Intestinal atresia (HP:0011100)2.01325830
118Trigonocephaly (HP:0000243)2.01184869
119Abnormality of the aortic arch (HP:0012303)2.00227184
120Abnormality of renal resorption (HP:0011038)1.98450239
121Abnormality of dicarboxylic acid metabolism (HP:0010995)1.97552764
122Dicarboxylic aciduria (HP:0003215)1.97552764
123Rib fusion (HP:0000902)1.96814640
124Nephronophthisis (HP:0000090)1.96536736
125Absent eyebrow (HP:0002223)1.96149752
126Chorioretinal atrophy (HP:0000533)1.96148465
127Broad phalanges of the hand (HP:0009768)1.95547130
128Broad long bones (HP:0005622)1.95277477
129Megaloblastic anemia (HP:0001889)1.95136805
130Hypotension (HP:0002615)1.93620156
131Vomiting (HP:0002013)1.93482445
132Oligodactyly (hands) (HP:0001180)1.93154588
133Oligodactyly (HP:0012165)1.92863173
134Abnormality of the vitamin B12 metabolism (HP:0004341)1.92302827
135Optic nerve hypoplasia (HP:0000609)1.91462387
136Abnormality of the 4th metacarpal (HP:0010012)1.90513393
137Broad phalanx (HP:0006009)1.89705076
138Abnormal enzyme/coenzyme activity (HP:0012379)1.89569909
139Cerebellar dysplasia (HP:0007033)1.88732003
140Gastrointestinal atresia (HP:0002589)1.88544092
141Arthropathy (HP:0003040)1.87746956
142Broad finger (HP:0001500)1.87613990
143True hermaphroditism (HP:0010459)1.86488874
144Abnormality of alkaline phosphatase activity (HP:0004379)1.84998613
145Abnormality of midbrain morphology (HP:0002418)1.84503687
146Molar tooth sign on MRI (HP:0002419)1.84503687
147Metabolic acidosis (HP:0001942)1.82613265
148* High anterior hairline (HP:0009890)1.81324535
149Tachypnea (HP:0002789)1.80623809
150Aplasia involving bones of the upper limbs (HP:0009823)1.80467637
151Aplasia of the phalanges of the hand (HP:0009802)1.80467637
152Aplasia involving bones of the extremities (HP:0009825)1.80467637
153Pancreatic fibrosis (HP:0100732)1.79588241
154Mixed hearing impairment (HP:0000410)1.79237067
155Generalized muscle weakness (HP:0003324)1.77066392
156Abnormal tarsal ossification (HP:0008369)1.76436958
157Abnormality of vitamin B metabolism (HP:0004340)1.75952498
158Vertebral clefting (HP:0008428)1.75890492
159Preaxial hand polydactyly (HP:0001177)1.75595543
160Missing ribs (HP:0000921)1.75479081
161Abnormality of the middle phalanges of the toes (HP:0010183)1.75061469
162Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.71865185
163Split foot (HP:0001839)1.71807748
164Absent septum pellucidum (HP:0001331)1.71465456
165Lethargy (HP:0001254)1.71442259
166Abnormality of the costochondral junction (HP:0000919)1.70617274
167Postaxial hand polydactyly (HP:0001162)1.70473930
168Lymphangioma (HP:0100764)1.70208769
169Coronal craniosynostosis (HP:0004440)1.69935197
170Tubulointerstitial abnormality (HP:0001969)1.69890414
171Abnormal lung lobation (HP:0002101)1.69641727
172Fibular hypoplasia (HP:0003038)1.68944262
173Pendular nystagmus (HP:0012043)1.68705350
174Metaphyseal irregularity (HP:0003025)1.68579325
175Nausea (HP:0002018)1.68566847
176Abnormality of the phalanges of the 5th finger (HP:0004213)1.68187736
177Methylmalonic aciduria (HP:0012120)1.67631069
178Stenosis of the external auditory canal (HP:0000402)1.66681460
179Megalencephaly (HP:0001355)1.66484687
180Abnormality of carpal bone ossification (HP:0006257)1.65326078
181Sclerocornea (HP:0000647)1.65239652
182Colon cancer (HP:0003003)1.65172177
183Cupped ear (HP:0000378)1.64975014
184Wide cranial sutures (HP:0010537)1.57353532
185Metaphyseal dysplasia (HP:0100255)1.55860813
186Neonatal death (HP:0003811)1.54154606
187Abnormality of serum amino acid levels (HP:0003112)1.53871172
188Abnormality of the renal cortex (HP:0011035)1.53712060

Predicted kinase interactions (KEA)

RankGene SetZ-score
1WNK38.75975734
2WNK48.00654528
3OXSR17.32097118
4STK393.88003409
5TNIK3.86247151
6EPHA43.25770735
7STK38L2.86773184
8CASK2.32758530
9NEK12.22477354
10EPHA22.14654835
11BCR2.12854193
12MAP3K42.11066655
13BCKDK2.09553697
14NTRK22.05105271
15MKNK11.90974646
16PDK31.90450807
17PDK41.90450807
18MARK11.79333933
19MAP2K71.71317232
20MKNK21.69292748
21SGK2231.67237523
22SGK4941.67237523
23MST41.59190528
24NTRK11.52236596
25TYRO31.50948151
26PDK21.49464034
27PLK21.46797479
28WNK11.44460465
29PLK41.31372313
30SRPK11.31182016
31BMPR1B1.20659442
32STK381.20178431
33LRRK21.10072701
34MST1R1.07479794
35SGK21.05712846
36SGK31.02652511
37CDK191.01423070
38PRKCG1.00310667
39PIK3CA1.00080377
40MAPK150.93785533
41NME10.93738055
42PAK40.93593352
43CDC70.90120069
44SCYL20.89238172
45CDK120.89227771
46MAP3K30.88898037
47TRIM280.88579912
48DYRK20.87900368
49NTRK30.84879782
50PNCK0.82623317
51TIE10.81624916
52LATS10.80463485
53CSNK1G20.79743967
54PRKCI0.78926594
55RPS6KA40.77924818
56UHMK10.77573388
57MAP3K100.77354131
58FGFR40.77325064
59PTK20.76677216
60MET0.74975845
61TTK0.74633466
62GSK3A0.74429889
63STK100.69784743
64MAP3K90.68614708
65FER0.62062419
66WEE10.61208145
67PLK10.59277166
68MAP2K40.58657462
69NLK0.57831533
70PRKCE0.57627739
71BRSK20.56211935
72ROCK20.55350557
73PTK60.54159766
74GRK60.50434660
75PASK0.49630413
76CDK50.49045707
77CSNK1G10.48833132
78ERBB30.48457109
79DYRK1A0.48329294
80SGK10.47987077
81PAK60.46711121
82RIPK10.46442306
83PKN10.45073337
84AKT20.42473049
85MINK10.41867059
86FRK0.41642747
87GRK10.41132024
88KSR10.40228472
89EPHB20.39629445
90MUSK0.39099082
91PRKAA10.39022791
92CSNK1A10.38237901
93MTOR0.37700015
94PINK10.37627077
95CDK180.37438584
96PKN20.37416251
97ATR0.37155873
98MAP4K20.36662026
99TSSK60.35398092
100EPHB10.35359515
101ATM0.35225871
102CSNK1A1L0.35087119
103CDK11A0.34859575
104CDK150.34105885
105PIM10.34024082
106CSNK1D0.33686530
107EPHA30.33522815
108PAK30.32263879
109MAP3K80.32007967
110TGFBR20.31118196
111PRKACB0.31095624
112TAF10.30716296
113CDK30.30474117
114CAMK2A0.30220859
115INSRR0.28739817
116RPS6KB20.28379685
117BUB10.27193987
118MAP3K70.26801170
119MAP2K30.25447005
120ABL20.25431095
121DYRK1B0.25390071
122ZAK0.25279828
123ERBB40.22996900
124FGFR10.22874949
125BMX0.22426707
126AURKA0.21460105
127FGFR20.21423305
128MAP3K20.21102614
129PDPK10.20696274
130LATS20.20217131
131TTN0.19760407
132STK30.17749727
133NEK20.17197455
134MAP2K20.16708060
135MAPK110.16252999
136TGFBR10.16097404
137ERBB20.15766174
138PRKCZ0.15694376
139CDK40.15046681
140PRKCD0.15011046
141PRKAA20.14420872
142PDGFRA0.14239432
143AURKB0.13635094
144BRD40.13145801
145AKT30.11885673
146CSNK1E0.11279046
147STK110.10472400
148INSR0.09538101
149CAMK1D0.08611361
150ROCK10.07395650
151MELK0.07312202
152IRAK30.06978502
153KDR0.06968180
154NEK90.06801308
155CDK70.04568494
156CDK60.03782802
157TRIB30.03714987
158PRKCA0.03183178
159PRKACG0.03049060
160TESK10.02940642
161CAMK1G0.02770636
162PLK30.02382725

Predicted pathways (KEGG)

RankGene SetZ-score
1Cyanoamino acid metabolism_Homo sapiens_hsa004603.81436886
2Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049643.57297176
3Butanoate metabolism_Homo sapiens_hsa006503.43278093
4Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006303.30633888
52-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.26725909
6Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.23606511
7Valine, leucine and isoleucine degradation_Homo sapiens_hsa002803.06075027
8Propanoate metabolism_Homo sapiens_hsa006402.98765971
9* Hedgehog signaling pathway_Homo sapiens_hsa043402.97577526
10Vitamin digestion and absorption_Homo sapiens_hsa049772.97438569
11Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.93621972
12Pentose and glucuronate interconversions_Homo sapiens_hsa000402.70534920
13Nicotine addiction_Homo sapiens_hsa050332.65493785
14Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.50069030
15Peroxisome_Homo sapiens_hsa041462.35322295
16Collecting duct acid secretion_Homo sapiens_hsa049662.26862687
17Pyruvate metabolism_Homo sapiens_hsa006202.23131580
18Fatty acid degradation_Homo sapiens_hsa000712.21261955
19Tryptophan metabolism_Homo sapiens_hsa003802.14639706
20Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.09267229
21Axon guidance_Homo sapiens_hsa043602.05567831
22beta-Alanine metabolism_Homo sapiens_hsa004101.87153812
23Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.86720938
24Carbon metabolism_Homo sapiens_hsa012001.84078953
25Glutathione metabolism_Homo sapiens_hsa004801.79702431
26Wnt signaling pathway_Homo sapiens_hsa043101.76848108
27Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.72729473
28Bile secretion_Homo sapiens_hsa049761.68909993
29Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.63628463
30Fatty acid metabolism_Homo sapiens_hsa012121.60509173
31Lysine degradation_Homo sapiens_hsa003101.60246260
32Mineral absorption_Homo sapiens_hsa049781.59754536
33Melanogenesis_Homo sapiens_hsa049161.58359548
34Protein digestion and absorption_Homo sapiens_hsa049741.55814993
35Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.50307426
36Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.45971197
37Arginine and proline metabolism_Homo sapiens_hsa003301.45760269
38Other glycan degradation_Homo sapiens_hsa005111.43752838
39Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.40257949
40Sulfur metabolism_Homo sapiens_hsa009201.37186948
41Notch signaling pathway_Homo sapiens_hsa043301.37161776
42Selenocompound metabolism_Homo sapiens_hsa004501.36651434
43Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.32532988
44Fanconi anemia pathway_Homo sapiens_hsa034601.28759009
45Biosynthesis of amino acids_Homo sapiens_hsa012301.25473497
46Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.24025229
47Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.23825511
48Nitrogen metabolism_Homo sapiens_hsa009101.20029228
49PPAR signaling pathway_Homo sapiens_hsa033201.19949245
50Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.17978258
51Arginine biosynthesis_Homo sapiens_hsa002201.09970740
52Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.07841513
53Homologous recombination_Homo sapiens_hsa034401.07558247
54Fructose and mannose metabolism_Homo sapiens_hsa000511.06907370
55Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.05661997
56TGF-beta signaling pathway_Homo sapiens_hsa043501.05613637
57Glutamatergic synapse_Homo sapiens_hsa047241.04673723
58Phototransduction_Homo sapiens_hsa047441.04419286
59Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.03410054
60Renin-angiotensin system_Homo sapiens_hsa046141.02213597
61Circadian entrainment_Homo sapiens_hsa047131.02186709
62Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.01162184
63Taste transduction_Homo sapiens_hsa047420.98638125
64Ether lipid metabolism_Homo sapiens_hsa005650.97980598
65Morphine addiction_Homo sapiens_hsa050320.96575082
66Starch and sucrose metabolism_Homo sapiens_hsa005000.95877025
67RNA degradation_Homo sapiens_hsa030180.95868744
68Non-homologous end-joining_Homo sapiens_hsa034500.94373871
69alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.92891312
70GABAergic synapse_Homo sapiens_hsa047270.90808766
71Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.90236955
72Cysteine and methionine metabolism_Homo sapiens_hsa002700.85812281
73Glycerolipid metabolism_Homo sapiens_hsa005610.85570362
74Folate biosynthesis_Homo sapiens_hsa007900.85131757
75Cocaine addiction_Homo sapiens_hsa050300.83665589
76Ribosome_Homo sapiens_hsa030100.83257444
77mRNA surveillance pathway_Homo sapiens_hsa030150.82290279
78Histidine metabolism_Homo sapiens_hsa003400.81846247
79Basal transcription factors_Homo sapiens_hsa030220.81060887
80Lysosome_Homo sapiens_hsa041420.80975789
81Linoleic acid metabolism_Homo sapiens_hsa005910.78224379
82Phenylalanine metabolism_Homo sapiens_hsa003600.75645404
83Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.75531091
84Pentose phosphate pathway_Homo sapiens_hsa000300.75471167
85Dopaminergic synapse_Homo sapiens_hsa047280.74785374
86Spliceosome_Homo sapiens_hsa030400.74434245
87Cardiac muscle contraction_Homo sapiens_hsa042600.73793129
88Pathways in cancer_Homo sapiens_hsa052000.68052034
89RNA transport_Homo sapiens_hsa030130.67729781
90One carbon pool by folate_Homo sapiens_hsa006700.66210866
91cAMP signaling pathway_Homo sapiens_hsa040240.65873831
92Rap1 signaling pathway_Homo sapiens_hsa040150.64921819
93Mismatch repair_Homo sapiens_hsa034300.63469707
94MicroRNAs in cancer_Homo sapiens_hsa052060.63275643
95Olfactory transduction_Homo sapiens_hsa047400.60498348
96Primary bile acid biosynthesis_Homo sapiens_hsa001200.59020697
97Cell cycle_Homo sapiens_hsa041100.58376138
98Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.57896513
99Protein export_Homo sapiens_hsa030600.57635021
100Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.56883410
101Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.56084976
102Insulin secretion_Homo sapiens_hsa049110.55346721
103Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.54493436
104Colorectal cancer_Homo sapiens_hsa052100.54467750
105Metabolic pathways_Homo sapiens_hsa011000.51314384
106Carbohydrate digestion and absorption_Homo sapiens_hsa049730.49546834
107Ras signaling pathway_Homo sapiens_hsa040140.49090244
108Gap junction_Homo sapiens_hsa045400.49044996
109Circadian rhythm_Homo sapiens_hsa047100.47992600
110Endometrial cancer_Homo sapiens_hsa052130.47116932
111Fatty acid elongation_Homo sapiens_hsa000620.46960082
112Alcoholism_Homo sapiens_hsa050340.46368630
113Nucleotide excision repair_Homo sapiens_hsa034200.45902520
114Amphetamine addiction_Homo sapiens_hsa050310.45886739
115Ovarian steroidogenesis_Homo sapiens_hsa049130.45287088
116Drug metabolism - other enzymes_Homo sapiens_hsa009830.45009668
117Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.43904726
118Glycosaminoglycan degradation_Homo sapiens_hsa005310.43770081
119ECM-receptor interaction_Homo sapiens_hsa045120.42954489
120Oocyte meiosis_Homo sapiens_hsa041140.42937076
121Tight junction_Homo sapiens_hsa045300.42379232
122Cholinergic synapse_Homo sapiens_hsa047250.41821810
123Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.41462290
124Chemical carcinogenesis_Homo sapiens_hsa052040.40628319
125Thyroid hormone signaling pathway_Homo sapiens_hsa049190.40200154
126ABC transporters_Homo sapiens_hsa020100.38449981
127Vibrio cholerae infection_Homo sapiens_hsa051100.37438040
128Steroid hormone biosynthesis_Homo sapiens_hsa001400.35261598
129Maturity onset diabetes of the young_Homo sapiens_hsa049500.34641545
130Arachidonic acid metabolism_Homo sapiens_hsa005900.33878019
131Hippo signaling pathway_Homo sapiens_hsa043900.30951203
132Retinol metabolism_Homo sapiens_hsa008300.30707998
133Gastric acid secretion_Homo sapiens_hsa049710.30494930
134Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.28543138
135Bladder cancer_Homo sapiens_hsa052190.27082585
136Sphingolipid metabolism_Homo sapiens_hsa006000.26792214
137Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.26168491
138Small cell lung cancer_Homo sapiens_hsa052220.20935298
139Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.20860204
140Oxidative phosphorylation_Homo sapiens_hsa001900.18561652
141Leukocyte transendothelial migration_Homo sapiens_hsa046700.18524594
142Steroid biosynthesis_Homo sapiens_hsa001000.18297727
143Galactose metabolism_Homo sapiens_hsa000520.18186548
144Basal cell carcinoma_Homo sapiens_hsa052170.16316935
145Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.15937149
146* Thyroid hormone synthesis_Homo sapiens_hsa049180.15574234
147Tyrosine metabolism_Homo sapiens_hsa003500.13391854
148Adherens junction_Homo sapiens_hsa045200.11589327
149Insulin resistance_Homo sapiens_hsa049310.10844928
150Choline metabolism in cancer_Homo sapiens_hsa052310.10838577
151Sulfur relay system_Homo sapiens_hsa041220.10369628
152Focal adhesion_Homo sapiens_hsa045100.08489006
153AMPK signaling pathway_Homo sapiens_hsa041520.08114598
154Inositol phosphate metabolism_Homo sapiens_hsa005620.06832627
155PI3K-Akt signaling pathway_Homo sapiens_hsa04151-0.0715990
156Amoebiasis_Homo sapiens_hsa05146-0.0580717
157Hepatitis C_Homo sapiens_hsa05160-0.0376830
158FoxO signaling pathway_Homo sapiens_hsa04068-0.0259005
159Synaptic vesicle cycle_Homo sapiens_hsa04721-0.0239452
160Adipocytokine signaling pathway_Homo sapiens_hsa04920-0.0035779

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