SLC5A2

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





Description: This gene encodes a member of the sodium glucose cotransporter family which are sodium-dependent glucose transport proteins. The encoded protein is the major cotransporter involved in glucose reabsorption in the kidney. Mutations in this gene are associated with renal glucosuria. Two transcript variants, one protein-coding and one not, have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1drug transport (GO:0015893)9.00373718
2organic cation transport (GO:0015695)8.67960530
3phosphate ion transport (GO:0006817)8.60685976
4lysine metabolic process (GO:0006553)8.22654532
5lysine catabolic process (GO:0006554)8.22654532
6quaternary ammonium group transport (GO:0015697)7.19274931
7drug catabolic process (GO:0042737)7.14581014
8exogenous drug catabolic process (GO:0042738)7.04140457
9phosphate ion transmembrane transport (GO:0035435)6.95884324
10glyoxylate metabolic process (GO:0046487)6.90799655
11response to mercury ion (GO:0046689)6.78825774
12tricarboxylic acid metabolic process (GO:0072350)6.25947510
13vitamin D metabolic process (GO:0042359)6.24661882
14excretion (GO:0007588)6.19332283
15cysteine metabolic process (GO:0006534)6.18730986
16renal absorption (GO:0070293)5.64867156
17short-chain fatty acid metabolic process (GO:0046459)5.59112823
18phosphate ion homeostasis (GO:0055062)5.57618673
19trivalent inorganic anion homeostasis (GO:0072506)5.57618673
20nonribosomal peptide biosynthetic process (GO:0019184)5.55039944
21aspartate family amino acid catabolic process (GO:0009068)5.51532851
22toxin transport (GO:1901998)5.44675184
23metanephric nephron tubule development (GO:0072234)5.33569935
24metanephric tubule development (GO:0072170)5.33569935
25amino-acid betaine transport (GO:0015838)5.16099560
26carnitine transport (GO:0015879)5.16099560
27homocysteine metabolic process (GO:0050667)5.13795426
28branched-chain amino acid metabolic process (GO:0009081)5.12071430
29modified amino acid transport (GO:0072337)5.00337763
30glycoside metabolic process (GO:0016137)4.98474113
31glutathione biosynthetic process (GO:0006750)4.94895788
32metanephric nephron epithelium development (GO:0072243)4.91022850
33proline metabolic process (GO:0006560)4.89259752
34erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.82781092
35L-phenylalanine metabolic process (GO:0006558)4.82781092
36fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.81968325
37L-phenylalanine catabolic process (GO:0006559)4.77728783
38erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.77728783
39valine metabolic process (GO:0006573)4.70269423
40serine family amino acid catabolic process (GO:0009071)4.66386994
41mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.64256196
42aromatic amino acid family catabolic process (GO:0009074)4.62255199
43cellular modified amino acid catabolic process (GO:0042219)4.59711408
44water-soluble vitamin biosynthetic process (GO:0042364)4.59126601
45mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.58426265
46serine family amino acid metabolic process (GO:0009069)4.54917410
47metanephric epithelium development (GO:0072207)4.53908159
48protein complex biogenesis (GO:0070271)4.52838484
49ATP synthesis coupled proton transport (GO:0015986)4.41368864
50energy coupled proton transport, down electrochemical gradient (GO:0015985)4.41368864
51indole-containing compound catabolic process (GO:0042436)4.39994087
52indolalkylamine catabolic process (GO:0046218)4.39994087
53tryptophan catabolic process (GO:0006569)4.39994087
54amino-acid betaine metabolic process (GO:0006577)4.36680975
55fructose metabolic process (GO:0006000)4.32179628
56fatty acid beta-oxidation (GO:0006635)4.31176422
572-oxoglutarate metabolic process (GO:0006103)4.25497502
58tryptophan metabolic process (GO:0006568)4.21305293
59branched-chain amino acid catabolic process (GO:0009083)4.17723444
60nephron tubule development (GO:0072080)4.17511816
61response to parathyroid hormone (GO:0071107)4.09004435
62mitochondrial respiratory chain complex assembly (GO:0033108)4.06564404
63chaperone-mediated protein transport (GO:0072321)4.06297616
64peptide biosynthetic process (GO:0043043)4.01607059
65behavioral response to nicotine (GO:0035095)3.99790873
66acetyl-CoA metabolic process (GO:0006084)3.99638906
67fatty acid oxidation (GO:0019395)3.97763478
68carnitine metabolic process (GO:0009437)3.94539802
69DNA deamination (GO:0045006)3.92613316
70sodium-independent organic anion transport (GO:0043252)3.92148580
71NADH metabolic process (GO:0006734)3.92129078
72cellular ketone body metabolic process (GO:0046950)3.91828335
73platelet dense granule organization (GO:0060155)3.91647653
74lipid oxidation (GO:0034440)3.90733306
75peptide catabolic process (GO:0043171)3.89463282
76response to growth hormone (GO:0060416)3.82141394
77epithelial cilium movement (GO:0003351)3.81866282
78respiratory chain complex IV assembly (GO:0008535)3.81854930
79oligosaccharide catabolic process (GO:0009313)3.80793739
80cytochrome complex assembly (GO:0017004)3.78897659
81respiratory electron transport chain (GO:0022904)3.78882776
82establishment of protein localization to mitochondrial membrane (GO:0090151)3.77666830
83electron transport chain (GO:0022900)3.77402917
84vitamin transport (GO:0051180)3.76193549
85mitochondrial respiratory chain complex I assembly (GO:0032981)3.75381245
86NADH dehydrogenase complex assembly (GO:0010257)3.75381245
87mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.75381245
88serine family amino acid biosynthetic process (GO:0009070)3.73621501
89glutamate metabolic process (GO:0006536)3.71709448
90cellular response to vitamin D (GO:0071305)3.69932037
91renal tubule development (GO:0061326)3.69694133
92cellular amino acid catabolic process (GO:0009063)3.68934400
93indole-containing compound metabolic process (GO:0042430)3.60003630
94glutathione metabolic process (GO:0006749)3.58173150
95alpha-amino acid catabolic process (GO:1901606)3.57386856
96fatty acid catabolic process (GO:0009062)3.55090493
97sulfur compound transport (GO:0072348)3.54042606
98response to lead ion (GO:0010288)3.53738419
99response to magnesium ion (GO:0032026)3.52906029
100epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.52248211
101drug metabolic process (GO:0017144)3.51558976
102polyol transport (GO:0015791)3.47891473
103aromatic amino acid family metabolic process (GO:0009072)3.44713247
104nephron tubule morphogenesis (GO:0072078)3.42223400
105nephron epithelium morphogenesis (GO:0072088)3.42223400
106glutathione derivative metabolic process (GO:1901685)3.39987289
107glutathione derivative biosynthetic process (GO:1901687)3.39987289
108nephron epithelium development (GO:0072009)3.38970138
109response to thyroid hormone (GO:0097066)3.38419900
110response to phenylpropanoid (GO:0080184)3.37596656
111ketone body metabolic process (GO:1902224)3.36730072
112carboxylic acid catabolic process (GO:0046395)3.36672484
113organic acid catabolic process (GO:0016054)3.36672484
114protein polyglutamylation (GO:0018095)3.35610853
115monocarboxylic acid catabolic process (GO:0072329)3.35509214
116ribosomal small subunit biogenesis (GO:0042274)3.33710409
117protein import into peroxisome matrix (GO:0016558)3.32804745
118rRNA modification (GO:0000154)3.32548380
119nonmotile primary cilium assembly (GO:0035058)3.30152363
120rRNA methylation (GO:0031167)3.29696857
121tricarboxylic acid cycle (GO:0006099)3.29102502
122cobalamin metabolic process (GO:0009235)3.28116516
123positive regulation of respiratory burst (GO:0060267)3.27723906
124sulfur amino acid catabolic process (GO:0000098)3.27581932
125dicarboxylic acid metabolic process (GO:0043648)3.26662768
126viral transcription (GO:0019083)3.26321868
127translational termination (GO:0006415)3.22417906
128inositol phosphate catabolic process (GO:0071545)3.12654646
129axoneme assembly (GO:0035082)3.09359019
130regulation of cilium movement (GO:0003352)3.05899136
131cilium movement (GO:0003341)3.03342032
132transcription elongation from RNA polymerase III promoter (GO:0006385)3.02800348
133termination of RNA polymerase III transcription (GO:0006386)3.02800348
134phosphorylated carbohydrate dephosphorylation (GO:0046838)3.01370773
135inositol phosphate dephosphorylation (GO:0046855)3.01370773
136intraciliary transport (GO:0042073)3.00443405
137axonemal dynein complex assembly (GO:0070286)2.99561309
138response to pheromone (GO:0019236)2.97361053
139base-excision repair, AP site formation (GO:0006285)2.96297794
140SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.94741109
141preassembly of GPI anchor in ER membrane (GO:0016254)2.93847008
142cotranslational protein targeting to membrane (GO:0006613)2.92340536
143protein targeting to ER (GO:0045047)2.91776481
144protein-cofactor linkage (GO:0018065)2.86511203
145regulation of mitochondrial translation (GO:0070129)2.84958557
146ATP biosynthetic process (GO:0006754)2.84664781
147nucleotide transmembrane transport (GO:1901679)2.84033379
148intracellular protein transmembrane import (GO:0044743)2.82546498
149sperm motility (GO:0030317)2.81565462
150establishment of protein localization to endoplasmic reticulum (GO:0072599)2.80993454
151hydrogen ion transmembrane transport (GO:1902600)2.80050075
152protein localization to endoplasmic reticulum (GO:0070972)2.79390234
153negative regulation of protein oligomerization (GO:0032460)2.78377271
154translational elongation (GO:0006414)2.77771091
155purine nucleoside triphosphate biosynthetic process (GO:0009145)2.73436117
156purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.69464596
157protein neddylation (GO:0045116)2.68970032
158mannosylation (GO:0097502)2.62012682
159proton transport (GO:0015992)2.61179829
160hydrogen transport (GO:0006818)2.55827251
161regulation of glucokinase activity (GO:0033131)2.55212725
162regulation of hexokinase activity (GO:1903299)2.55212725
163replication fork processing (GO:0031297)2.53909540
164endocrine pancreas development (GO:0031018)2.53665386
165pattern specification involved in kidney development (GO:0061004)2.52158716
166piRNA metabolic process (GO:0034587)2.50792212
167purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.50777956
1683-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.50777956
169acrosome reaction (GO:0007340)2.50580208
170single strand break repair (GO:0000012)2.50408187
171vitamin biosynthetic process (GO:0009110)2.48614934
172positive regulation of gastrulation (GO:2000543)2.45025927
173membrane repolarization during action potential (GO:0086011)2.43054029
174cornea development in camera-type eye (GO:0061303)2.42832066
175positive regulation of meiosis (GO:0045836)2.42643118
176cellular protein complex disassembly (GO:0043624)2.42136313
177detection of light stimulus involved in sensory perception (GO:0050962)2.42074978
178detection of light stimulus involved in visual perception (GO:0050908)2.42074978
179negative regulation of mast cell activation (GO:0033004)2.39954382
180viral life cycle (GO:0019058)2.37670831
181segment specification (GO:0007379)2.37461647
182membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.37259967
183insulin secretion (GO:0030073)2.36596749
184spinal cord motor neuron differentiation (GO:0021522)2.36325740
185protein localization to cilium (GO:0061512)2.32506945
186multicellular organism reproduction (GO:0032504)2.31323591
187ribosomal small subunit assembly (GO:0000028)2.31271364
188male meiosis I (GO:0007141)2.30985202
189GPI anchor metabolic process (GO:0006505)2.30868192
190DNA methylation involved in gamete generation (GO:0043046)2.30712811
191C-terminal protein lipidation (GO:0006501)2.29775614
192aminoglycoside antibiotic metabolic process (GO:0030647)11.5723264
193urate metabolic process (GO:0046415)10.9475358
194drug transmembrane transport (GO:0006855)10.6907525

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse6.62096453
2RXR_22158963_ChIP-Seq_LIVER_Mouse5.46124173
3PPARA_22158963_ChIP-Seq_LIVER_Mouse4.54845092
4PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.25724253
5ESR1_21235772_ChIP-Seq_MCF-7_Human3.92437936
6LXR_22158963_ChIP-Seq_LIVER_Mouse3.92417938
7HNF4A_19761587_ChIP-ChIP_CACO-2_Human3.02298380
8TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.82865201
9TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.72922271
10CHD7_19251738_ChIP-ChIP_MESCs_Mouse2.68941693
11ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.66698359
12AR_21909140_ChIP-Seq_LNCAP_Human2.60365539
13GABP_17652178_ChIP-ChIP_JURKAT_Human2.53303571
14RARG_19884340_ChIP-ChIP_MEFs_Mouse2.51352191
15HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.49376965
16TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.47374756
17SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.44640910
18KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.40060438
19ESR2_21235772_ChIP-Seq_MCF-7_Human2.38358073
20E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.37931926
21EZH2_22144423_ChIP-Seq_EOC_Human2.37551057
22NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.37403379
23BMI1_23680149_ChIP-Seq_NPCS_Mouse2.26536322
24GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.25906205
25ZNF274_21170338_ChIP-Seq_K562_Hela2.22678453
26CLOCK_20551151_ChIP-Seq_293T_Human2.19132971
27TRIM28_21343339_ChIP-Seq_HEK293_Human2.14351591
28CDX2_20551321_ChIP-Seq_CACO-2_Human2.13614059
29NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.11802289
30VDR_22108803_ChIP-Seq_LS180_Human2.02970187
31EST1_17652178_ChIP-ChIP_JURKAT_Human2.02540756
32TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.99882784
33GBX2_23144817_ChIP-Seq_PC3_Human1.98478819
34JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.96842559
35FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.88617077
36EGR1_23403033_ChIP-Seq_LIVER_Mouse1.83043858
37CBX2_27304074_Chip-Seq_ESCs_Mouse1.77257760
38NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.75557257
39CTBP2_25329375_ChIP-Seq_LNCAP_Human1.74972910
40FUS_26573619_Chip-Seq_HEK293_Human1.74604811
41TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.71205813
42CTBP1_25329375_ChIP-Seq_LNCAP_Human1.70367664
43PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.68253069
44* HNF4A_19822575_ChIP-Seq_HepG2_Human1.62642768
45ETS1_20019798_ChIP-Seq_JURKAT_Human1.60944870
46EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.59998106
47ZFP57_27257070_Chip-Seq_ESCs_Mouse1.58921071
48TP53_22573176_ChIP-Seq_HFKS_Human1.58079178
49EZH2_27304074_Chip-Seq_ESCs_Mouse1.58027769
50ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.56579096
51EED_16625203_ChIP-ChIP_MESCs_Mouse1.55418993
52REST_21632747_ChIP-Seq_MESCs_Mouse1.55330985
53MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.55131592
54JARID2_20064375_ChIP-Seq_MESCs_Mouse1.54910627
55EWS_26573619_Chip-Seq_HEK293_Human1.54860562
56GATA4_25053715_ChIP-Seq_YYC3_Human1.54736429
57IRF1_19129219_ChIP-ChIP_H3396_Human1.53825735
58SOX2_27498859_Chip-Seq_STOMACH_Mouse1.51673449
59STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.48689857
60* LXR_22292898_ChIP-Seq_THP-1_Human1.45884368
61P300_19829295_ChIP-Seq_ESCs_Human1.45399417
62RNF2_27304074_Chip-Seq_NSC_Mouse1.44637993
63CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.44427992
64EZH2_27294783_Chip-Seq_ESCs_Mouse1.44315532
65ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.42030014
66FOXA2_19822575_ChIP-Seq_HepG2_Human1.41831296
67NOTCH1_21737748_ChIP-Seq_TLL_Human1.41370760
68IGF1R_20145208_ChIP-Seq_DFB_Human1.41020971
69FOXO3_23340844_ChIP-Seq_DLD1_Human1.40697862
70STAT3_1855785_ChIP-Seq_MESCs_Mouse1.40678120
71NANOG_20526341_ChIP-Seq_ESCs_Human1.40649671
72JARID2_20075857_ChIP-Seq_MESCs_Mouse1.36545810
73MYC_19829295_ChIP-Seq_ESCs_Human1.36458226
74GATA3_21878914_ChIP-Seq_MCF-7_Human1.36270834
75EGR1_19032775_ChIP-ChIP_M12_Human1.36023720
76MYC_18940864_ChIP-ChIP_HL60_Human1.34815934
77RACK7_27058665_Chip-Seq_MCF-7_Human1.34078649
78SUZ12_27294783_Chip-Seq_ESCs_Mouse1.33852295
79BCAT_22108803_ChIP-Seq_LS180_Human1.33713208
80REST_18959480_ChIP-ChIP_MESCs_Mouse1.33367482
81NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.32732506
82ERA_21632823_ChIP-Seq_H3396_Human1.32595886
83HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.30772813
84SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.30008333
85VDR_23849224_ChIP-Seq_CD4+_Human1.29774179
86GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.27953115
87SRF_21415370_ChIP-Seq_HL-1_Mouse1.27737587
88EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.27087328
89GATA6_25053715_ChIP-Seq_YYC3_Human1.25744342
90ETV2_25802403_ChIP-Seq_MESCs_Mouse1.25618470
91CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.23828210
92TAF15_26573619_Chip-Seq_HEK293_Human1.23394296
93RXR_22108803_ChIP-Seq_LS180_Human1.22480363
94FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.21642531
95NCOR_22424771_ChIP-Seq_293T_Human1.21290273
96SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.20365291
97IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.19273311
98CBP_20019798_ChIP-Seq_JUKART_Human1.19273311
99TBX20_22328084_ChIP-Seq_HEART_Mouse1.18230680
100TBX20_22080862_ChIP-Seq_HEART_Mouse1.18230680
101SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.17576404
102MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.16715925
103SMAD3_21741376_ChIP-Seq_HESCs_Human1.15598438
104POU3F2_20337985_ChIP-ChIP_501MEL_Human1.14714444
105RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.14056248
106CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.13560787
107SOX2_19829295_ChIP-Seq_ESCs_Human1.13505737
108NANOG_19829295_ChIP-Seq_ESCs_Human1.13505737
109IKZF1_21737484_ChIP-ChIP_HCT116_Human1.13488546
110SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.13181421
111PIAS1_25552417_ChIP-Seq_VCAP_Human1.10788813
112FOXA1_25329375_ChIP-Seq_VCAP_Human1.10678380
113FOXA1_27270436_Chip-Seq_PROSTATE_Human1.10678380
114SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.10576751
115IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.10122158
116AR_25329375_ChIP-Seq_VCAP_Human1.09916195
117* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.08733857
118SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.08596987
119YY1_21170310_ChIP-Seq_MESCs_Mouse1.08385263
120SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.07117935
121FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.04263667
122CDX2_19796622_ChIP-Seq_MESCs_Mouse1.03122762
123PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.03061256
124BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.02726211
125* PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.02721509
126SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.02675297
127YY1_22570637_ChIP-Seq_MALME-3M_Human1.02473325
128HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.01733111
129PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.01711451
130PPAR_26484153_Chip-Seq_NCI-H1993_Human1.01634723
131E2F1_20622854_ChIP-Seq_HELA_Human0.99893164
132RNF2_18974828_ChIP-Seq_MESCs_Mouse0.99384716
133EZH2_18974828_ChIP-Seq_MESCs_Mouse0.99384716
134SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.98762910
135AR_20517297_ChIP-Seq_VCAP_Human0.98596145
136ERG_21242973_ChIP-ChIP_JURKAT_Human0.98495050
137MTF2_20144788_ChIP-Seq_MESCs_Mouse0.98388802
138PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.98257648
139CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.98033470
140UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.98008825
141AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.97999232
142P53_21459846_ChIP-Seq_SAOS-2_Human0.97817098
143CDX2_22108803_ChIP-Seq_LS180_Human0.97075755
144ER_23166858_ChIP-Seq_MCF-7_Human0.97055721
145FOXH1_21741376_ChIP-Seq_ESCs_Human0.96525729
146SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.95328698
147GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.94946515
148AUTS2_25519132_ChIP-Seq_293T-REX_Human0.93812944
149CTCF_20526341_ChIP-Seq_ESCs_Human0.91791795
150SOX2_20726797_ChIP-Seq_SW620_Human0.91254107
151NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.89500213
152ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.87995609
153EP300_21415370_ChIP-Seq_HL-1_Mouse0.87606452
154SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.86668352
155RAD21_21589869_ChIP-Seq_MESCs_Mouse0.86413218
156EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.85996429
157SMAD4_21741376_ChIP-Seq_HESCs_Human0.85884123
158RAC3_21632823_ChIP-Seq_H3396_Human0.82999436
159NANOG_18692474_ChIP-Seq_MEFs_Mouse0.81636036
160P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.81134430
161ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.80188100
162GATA2_19941826_ChIP-Seq_K562_Human0.79477209
163SOX2_18692474_ChIP-Seq_MEFs_Mouse0.79293521
164BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.78047617
165CSB_26484114_Chip-Seq_FIBROBLAST_Human0.77939430
166VDR_24787735_ChIP-Seq_THP-1_Human0.77547035
167SMC4_20622854_ChIP-Seq_HELA_Human0.76420348
168EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.75946570
169SALL4_18804426_ChIP-ChIP_XEN_Mouse0.75401507
170TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.75360646
171TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.74662910
172TAF2_19829295_ChIP-Seq_ESCs_Human0.74203665
173GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.73043094
174CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.73008418
175GATA1_19941826_ChIP-Seq_K562_Human0.72867966
176WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.72691064
177P68_20966046_ChIP-Seq_HELA_Human0.72616275
178SOX11_22085726_ChIP-Seq_ESNs_Mouse0.71062883
179FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.70688152
180TP63_23658742_ChIP-Seq_EP156T_Human0.70491752
181GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.69798351
182* MYC_19915707_ChIP-ChIP_AK7_Human0.69349679
183TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.69010956
184TET1_21451524_ChIP-Seq_MESCs_Mouse0.68014534
185CTCF_27219007_Chip-Seq_Bcells_Human0.67917205
186CEBPB_22108803_ChIP-Seq_LS180_Human0.66709375
187GATA1_19941827_ChIP-Seq_MEL86_Mouse0.66647432
188* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.66575037
189SMAD4_21741376_ChIP-Seq_EPCs_Human0.66336081

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis7.62657909
2MP0004043_abnormal_pH_regulation6.87891281
3MP0004019_abnormal_vitamin_homeostasis5.15543293
4MP0005332_abnormal_amino_acid4.88730242
5MP0002139_abnormal_hepatobiliary_system4.49523789
6MP0003195_calcinosis4.28687730
7MP0001765_abnormal_ion_homeostasis4.04413460
8MP0009643_abnormal_urine_homeostasis4.03541791
9MP0002138_abnormal_hepatobiliary_system3.99356352
10MP0005636_abnormal_mineral_homeostasis3.34801859
11MP0001756_abnormal_urination3.14138354
12MP0005377_hearing/vestibular/ear_phenot3.12846941
13MP0003878_abnormal_ear_physiology3.12846941
14MP0002136_abnormal_kidney_physiology3.05811293
15MP0001958_emphysema2.85789145
16MP0002837_dystrophic_cardiac_calcinosis2.85379673
17MP0008875_abnormal_xenobiotic_pharmacok2.80626292
18MP0001986_abnormal_taste_sensitivity2.45616324
19MP0003252_abnormal_bile_duct2.44579544
20MP0001984_abnormal_olfaction2.42806705
21MP0002254_reproductive_system_inflammat2.40589754
22MP0008877_abnormal_DNA_methylation2.38408741
23MP0005423_abnormal_somatic_nervous2.34163004
24MP0006292_abnormal_olfactory_placode2.30926409
25MP0003787_abnormal_imprinting2.30736510
26MP0001968_abnormal_touch/_nociception2.14827078
27MP0005365_abnormal_bile_salt2.13846172
28MP0005058_abnormal_lysosome_morphology2.05695585
29MP0002163_abnormal_gland_morphology2.05344231
30MP0009046_muscle_twitch2.03564001
31MP0003122_maternal_imprinting1.95723589
32MP0005085_abnormal_gallbladder_physiolo1.94873734
33MP0005174_abnormal_tail_pigmentation1.93139687
34MP0009379_abnormal_foot_pigmentation1.92507112
35MP0005410_abnormal_fertilization1.92115996
36MP0003011_delayed_dark_adaptation1.88928422
37MP0003136_yellow_coat_color1.85714306
38MP0005379_endocrine/exocrine_gland_phen1.82827872
39MP0003186_abnormal_redox_activity1.82544623
40MP0008961_abnormal_basal_metabolism1.77137849
41MP0006072_abnormal_retinal_apoptosis1.75698189
42MP0004142_abnormal_muscle_tone1.75579870
43MP0005551_abnormal_eye_electrophysiolog1.73599749
44MP0002272_abnormal_nervous_system1.69633422
45MP0004885_abnormal_endolymph1.68133387
46MP0005646_abnormal_pituitary_gland1.66538740
47MP0005584_abnormal_enzyme/coenzyme_acti1.65541402
48MP0000538_abnormal_urinary_bladder1.64464217
49MP0002736_abnormal_nociception_after1.62238248
50MP0000631_abnormal_neuroendocrine_gland1.58759925
51MP0001905_abnormal_dopamine_level1.52597485
52MP0001944_abnormal_pancreas_morphology1.48635459
53MP0009745_abnormal_behavioral_response1.48340766
54MP0003300_gastrointestinal_ulcer1.46893207
55MP0002909_abnormal_adrenal_gland1.44723607
56MP0005451_abnormal_body_composition1.44264266
57MP0008789_abnormal_olfactory_epithelium1.43100730
58MP0003121_genomic_imprinting1.40307460
59MP0002102_abnormal_ear_morphology1.39705758
60MP0002735_abnormal_chemical_nociception1.36806344
61MP0002160_abnormal_reproductive_system1.35479658
62MP0004133_heterotaxia1.34501915
63MP0004147_increased_porphyrin_level1.33595693
64MP0005319_abnormal_enzyme/_coenzyme1.32469002
65MP0002168_other_aberrant_phenotype1.31908029
66MP0002638_abnormal_pupillary_reflex1.31898126
67MP0005499_abnormal_olfactory_system1.30873499
68MP0005394_taste/olfaction_phenotype1.30873499
69MP0002557_abnormal_social/conspecific_i1.29889695
70MP0005084_abnormal_gallbladder_morpholo1.29685296
71MP0002277_abnormal_respiratory_mucosa1.28551602
72MP0006036_abnormal_mitochondrial_physio1.28242020
73MP0005645_abnormal_hypothalamus_physiol1.27106066
74MP0003123_paternal_imprinting1.27062317
75MP0002928_abnormal_bile_duct1.26102425
76MP0000230_abnormal_systemic_arterial1.24640131
77MP0002653_abnormal_ependyma_morphology1.23492957
78MP0002693_abnormal_pancreas_physiology1.21279648
79MP0005389_reproductive_system_phenotype1.21184560
80MP0005670_abnormal_white_adipose1.19813250
81MP0002234_abnormal_pharynx_morphology1.18598384
82MP0001970_abnormal_pain_threshold1.17923326
83MP0003806_abnormal_nucleotide_metabolis1.17467447
84MP0000013_abnormal_adipose_tissue1.16218065
85MP0002938_white_spotting1.15768771
86MP0002822_catalepsy1.15695188
87MP0001529_abnormal_vocalization1.13341620
88MP0002135_abnormal_kidney_morphology1.12754366
89MP0001188_hyperpigmentation1.11742797
90MP0001919_abnormal_reproductive_system1.10829525
91MP0002876_abnormal_thyroid_physiology1.10776644
92MP0002733_abnormal_thermal_nociception1.09616471
93MP0000015_abnormal_ear_pigmentation1.07980733
94MP0002572_abnormal_emotion/affect_behav1.05752603
95MP0002896_abnormal_bone_mineralization1.05138495
96MP0002064_seizures1.04267611
97MP0006276_abnormal_autonomic_nervous1.03537900
98MP0001440_abnormal_grooming_behavior1.01235758
99MP0001764_abnormal_homeostasis1.00895385
100MP0005535_abnormal_body_temperature1.00442385
101MP0005253_abnormal_eye_physiology1.00432035
102MP0002184_abnormal_innervation1.00118112
103MP0005666_abnormal_adipose_tissue1.00011030
104MP0003698_abnormal_male_reproductive0.99496143
105MP0001486_abnormal_startle_reflex0.97628291
106MP0002734_abnormal_mechanical_nocicepti0.97203788
107MP0003283_abnormal_digestive_organ0.89418054
108MP0002089_abnormal_postnatal_growth/wei0.89284758
109MP0003137_abnormal_impulse_conducting0.87399342
110MP0003880_abnormal_central_pattern0.86465329
111MP0003635_abnormal_synaptic_transmissio0.85575301
112MP0003172_abnormal_lysosome_physiology0.85569910
113MP0001929_abnormal_gametogenesis0.85159860
114MP0002132_abnormal_respiratory_system0.83837482
115MP0002118_abnormal_lipid_homeostasis0.81702920
116MP0004264_abnormal_extraembryonic_tissu0.81552178
117MP0005195_abnormal_posterior_eye0.80459735
118MP0003638_abnormal_response/metabolism_0.80391631
119MP0005448_abnormal_energy_balance0.79346709
120MP0000049_abnormal_middle_ear0.78950650
121MP0000747_muscle_weakness0.77217788
122MP0003646_muscle_fatigue0.75296951
123MP0001666_abnormal_nutrient_absorption0.75079559
124MP0009642_abnormal_blood_homeostasis0.74732593
125MP0009764_decreased_sensitivity_to0.73096709
126MP0003191_abnormal_cellular_cholesterol0.72981785
127MP0005220_abnormal_exocrine_pancreas0.67715812
128MP0005395_other_phenotype0.66611611
129MP0010234_abnormal_vibrissa_follicle0.59786956
130MP0001661_extended_life_span0.59438143
131MP0001485_abnormal_pinna_reflex0.57132835
132MP0000371_diluted_coat_color0.57042577
133MP0000609_abnormal_liver_physiology0.56546840
134MP0002796_impaired_skin_barrier0.54810914
135MP0010329_abnormal_lipoprotein_level0.54206835
136MP0000678_abnormal_parathyroid_gland0.53300265
137MP0003959_abnormal_lean_body0.52885683
138MP0005408_hypopigmentation0.51906200
139MP0008469_abnormal_protein_level0.51319970
140MP0002115_abnormal_skeleton_extremities0.50550841
141MP0005501_abnormal_skin_physiology0.49943919
142MP0000598_abnormal_liver_morphology0.49215432
143MP0005165_increased_susceptibility_to0.48998258
144MP0004742_abnormal_vestibular_system0.48805350
145MP0002998_abnormal_bone_remodeling0.47617107
146MP0003329_amyloid_beta_deposits0.47075818
147MP0004858_abnormal_nervous_system0.47034731
148MP0003879_abnormal_hair_cell0.46671392
149MP0003795_abnormal_bone_structure0.45584258
150MP0006035_abnormal_mitochondrial_morpho0.44071071
151MP0003953_abnormal_hormone_level0.43801970
152MP0001663_abnormal_digestive_system0.42464039
153MP0002078_abnormal_glucose_homeostasis0.42285994
154MP0004484_altered_response_of0.41510749
155MP0010386_abnormal_urinary_bladder0.41287155
156MP0002069_abnormal_eating/drinking_beha0.41136683
157MP0005375_adipose_tissue_phenotype0.41044630
158MP0004272_abnormal_basement_membrane0.40958545
159MP0000163_abnormal_cartilage_morphology0.38074355
160MP0003221_abnormal_cardiomyocyte_apopto0.35590082
161MP0009672_abnormal_birth_weight0.35553287
162MP0001177_atelectasis0.35331291
163MP0002098_abnormal_vibrissa_morphology0.33230287
164MP0001731_abnormal_postnatal_growth0.32574873
165MP0001963_abnormal_hearing_physiology0.31765929
166MP0005167_abnormal_blood-brain_barrier0.30531220
167MP0000534_abnormal_ureter_morphology0.28196826
168MP0001664_abnormal_digestion0.26892483
169MP0008872_abnormal_physiological_respon0.26158148
170MP0005381_digestive/alimentary_phenotyp0.25852072
171MP0002113_abnormal_skeleton_development0.25086720
172MP0005166_decreased_susceptibility_to0.24717043

Predicted human phenotypes

RankGene SetZ-score
1Increased circulating renin level (HP:0000848)8.56885164
2Hypokalemic alkalosis (HP:0001949)7.79345423
3Metabolic alkalosis (HP:0200114)7.60321881
4Hypomagnesemia (HP:0002917)7.20508820
5Hyperactive renin-angiotensin system (HP:0000841)7.20282738
6Gout (HP:0001997)6.93497905
7Abnormality of chloride homeostasis (HP:0011422)6.50656411
8* Polyuria (HP:0000103)6.12043026
9Abnormality of magnesium homeostasis (HP:0004921)6.10814433
10* Abnormal urine output (HP:0012590)5.70845854
11Proximal tubulopathy (HP:0000114)5.69978669
12* Abnormality of renal excretion (HP:0011036)5.51137693
13Abnormality of renin-angiotensin system (HP:0000847)5.18010591
14Alkalosis (HP:0001948)5.07444533
15Tetany (HP:0001281)5.05688790
16Renal salt wasting (HP:0000127)4.95395889
17Hyperaldosteronism (HP:0000859)4.88870597
18Hyperuricemia (HP:0002149)4.86251880
19Increased purine levels (HP:0004368)4.86251880
20Abnormality of glutamine family amino acid metabolism (HP:0010902)4.77273032
21Hyperglycinuria (HP:0003108)4.67544433
22Abnormality of purine metabolism (HP:0004352)4.35267488
23Hypercalciuria (HP:0002150)4.27481423
24Generalized aminoaciduria (HP:0002909)4.27218274
25* Polydipsia (HP:0001959)4.19118893
26* Abnormal drinking behavior (HP:0030082)4.19118893
27Hypokalemia (HP:0002900)3.93739399
28Abnormality of glycine metabolism (HP:0010895)3.82358806
29Abnormality of serine family amino acid metabolism (HP:0010894)3.82358806
30Renal tubular acidosis (HP:0001947)3.65115523
31Abnormality of midbrain morphology (HP:0002418)3.62569711
32Molar tooth sign on MRI (HP:0002419)3.62569711
33Acute necrotizing encephalopathy (HP:0006965)3.61082814
34Mitochondrial inheritance (HP:0001427)3.57642123
35Ketoacidosis (HP:0001993)3.44408584
36Renal Fanconi syndrome (HP:0001994)3.41928801
37Lipid accumulation in hepatocytes (HP:0006561)3.38911442
38Hyperphosphaturia (HP:0003109)3.36447509
39Delayed epiphyseal ossification (HP:0002663)3.34880549
40Abnormality of potassium homeostasis (HP:0011042)3.30125853
41Increased hepatocellular lipid droplets (HP:0006565)3.29631730
42Nephronophthisis (HP:0000090)3.27395627
43Abnormality of nucleobase metabolism (HP:0010932)3.25783433
44Progressive macrocephaly (HP:0004481)3.24593714
45Hydroxyprolinuria (HP:0003080)3.24488360
46Abnormality of proline metabolism (HP:0010907)3.24488360
47Abnormal urine phosphate concentration (HP:0012599)3.23319222
48Abnormal mitochondria in muscle tissue (HP:0008316)3.20626217
49Acute encephalopathy (HP:0006846)3.13077331
50Congenital stationary night blindness (HP:0007642)3.11802654
51Ketosis (HP:0001946)3.09769697
52Nephrocalcinosis (HP:0000121)3.07969367
53Increased CSF lactate (HP:0002490)3.06486013
54Pancreatic cysts (HP:0001737)3.01380970
55Rib fusion (HP:0000902)2.92292073
56* Glycosuria (HP:0003076)2.89206425
57* Abnormality of urine glucose concentration (HP:0011016)2.89206425
58Decreased activity of mitochondrial respiratory chain (HP:0008972)2.85570438
59Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.85570438
60Nephrolithiasis (HP:0000787)2.84403174
61Pancreatic fibrosis (HP:0100732)2.84102277
62Methylmalonic acidemia (HP:0002912)2.83760051
63Hepatocellular necrosis (HP:0001404)2.81286519
64Medial flaring of the eyebrow (HP:0010747)2.80230242
65Hepatic necrosis (HP:0002605)2.76751529
66Hypophosphatemia (HP:0002148)2.76219848
67Abnormal rod and cone electroretinograms (HP:0008323)2.76052506
68Congenital, generalized hypertrichosis (HP:0004540)2.72190403
69Rickets (HP:0002748)2.70328781
70Abnormality of fatty-acid metabolism (HP:0004359)2.69667257
71Metaphyseal cupping (HP:0003021)2.69624369
72Abnormality of aspartate family amino acid metabolism (HP:0010899)2.63795171
73Hyperinsulinemic hypoglycemia (HP:0000825)2.63004144
74Hyperglycinemia (HP:0002154)2.62156488
75Abnormality of the renal medulla (HP:0100957)2.61785969
76Vascular calcification (HP:0004934)2.60663868
77Widely patent fontanelles and sutures (HP:0004492)2.58415934
78Dehydration (HP:0001944)2.54688639
79Abnormality of sodium homeostasis (HP:0010931)2.52330336
80Hyponatremia (HP:0002902)2.51692915
813-Methylglutaconic aciduria (HP:0003535)2.51317914
82Delayed CNS myelination (HP:0002188)2.49711080
83Vacuolated lymphocytes (HP:0001922)2.45678666
84Exertional dyspnea (HP:0002875)2.45522698
85True hermaphroditism (HP:0010459)2.45407581
86Congenital malformation of the right heart (HP:0011723)2.44945551
87Double outlet right ventricle (HP:0001719)2.44945551
88Bony spicule pigmentary retinopathy (HP:0007737)2.43640138
89Abnormality of renal resorption (HP:0011038)2.43568924
90Attenuation of retinal blood vessels (HP:0007843)2.42513976
91Hyperammonemia (HP:0001987)2.37067668
92Chronic hepatic failure (HP:0100626)2.35860147
93Enlarged kidneys (HP:0000105)2.33777489
94Renal tubular dysfunction (HP:0000124)2.33045583
95Cardiovascular calcification (HP:0011915)2.32338829
96Abnormal ciliary motility (HP:0012262)2.32029685
97Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.30169518
98Abnormality of vitamin B metabolism (HP:0004340)2.29118238
99Thin bony cortex (HP:0002753)2.28276866
100Confusion (HP:0001289)2.28119448
101Vomiting (HP:0002013)2.27749842
102Abnormality of dicarboxylic acid metabolism (HP:0010995)2.27127836
103Dicarboxylic aciduria (HP:0003215)2.27127836
104Abnormal enzyme/coenzyme activity (HP:0012379)2.24693813
105Adrenal overactivity (HP:0002717)2.23119946
106Type II lissencephaly (HP:0007260)2.22095973
107Abnormality of the renal cortex (HP:0011035)2.20492804
108Cerebral edema (HP:0002181)2.19205095
109Abnormality of alkaline phosphatase activity (HP:0004379)2.19009597
110Increased intramyocellular lipid droplets (HP:0012240)2.18933233
111Lactic acidosis (HP:0003128)2.17764443
112Malnutrition (HP:0004395)2.17100476
113Hypothermia (HP:0002045)2.16906397
114Hyperthyroidism (HP:0000836)2.16469737
115Metabolic acidosis (HP:0001942)2.16157575
116Limb dystonia (HP:0002451)2.15057672
117Chondrocalcinosis (HP:0000934)2.13518512
118Sclerocornea (HP:0000647)2.12273399
119Bilateral sensorineural hearing impairment (HP:0008619)2.11486276
120Abnormal respiratory epithelium morphology (HP:0012253)2.10967950
121Abnormal respiratory motile cilium morphology (HP:0005938)2.10967950
122Gait imbalance (HP:0002141)2.10041094
123Optic disc pallor (HP:0000543)2.07196640
124Large for gestational age (HP:0001520)2.04875629
125Tubulointerstitial fibrosis (HP:0005576)2.04286566
126Abnormality of the costochondral junction (HP:0000919)2.04018152
127Increased muscle lipid content (HP:0009058)2.03530805
128Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.03371973
129Occipital encephalocele (HP:0002085)2.03081934
130Abnormality of aromatic amino acid family metabolism (HP:0004338)2.02500222
131Abnormal tarsal ossification (HP:0008369)2.02277144
132Respiratory failure (HP:0002878)2.01903705
133Abnormality of Sharpey fibers (HP:0100685)2.00765478
134Tubular atrophy (HP:0000092)2.00200454
135Methylmalonic aciduria (HP:0012120)1.99974601
136Abnormal respiratory motile cilium physiology (HP:0012261)1.98928643
137Lethargy (HP:0001254)1.98385249
138Facial shape deformation (HP:0011334)1.96861449
139Potter facies (HP:0002009)1.96861449
140Absent/shortened dynein arms (HP:0200106)1.96583573
141Dynein arm defect of respiratory motile cilia (HP:0012255)1.96583573
142Congenital sensorineural hearing impairment (HP:0008527)1.94608421
143Congenital primary aphakia (HP:0007707)1.94426461
144Abnormality of sulfur amino acid metabolism (HP:0004339)1.94171687
145Intestinal atresia (HP:0011100)1.93310767
146Aplasia/hypoplasia of the uterus (HP:0008684)1.92944644
147Hypoglycemic coma (HP:0001325)1.89107811
148Nephrogenic diabetes insipidus (HP:0009806)1.88871656
149Metaphyseal irregularity (HP:0003025)1.88716122
150Disproportionate short-trunk short stature (HP:0003521)1.88594599
151Bicornuate uterus (HP:0000813)1.87634192
152Colon cancer (HP:0003003)1.87551978
153Decreased electroretinogram (ERG) amplitude (HP:0000654)1.86834346
154Lymphangioma (HP:0100764)1.86186534
155Macrocytic anemia (HP:0001972)1.86037819
156Furrowed tongue (HP:0000221)1.85164591
157Abolished electroretinogram (ERG) (HP:0000550)1.84613912
158Decreased circulating renin level (HP:0003351)1.84089230
159Enlarged penis (HP:0000040)1.82329561
160Reticulocytopenia (HP:0001896)1.82310542
161Nausea (HP:0002018)1.81920366
162Increased serum lactate (HP:0002151)1.81868207
163Abnormality of the labia minora (HP:0012880)1.80995468
164Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.80280808
165Elevated alkaline phosphatase (HP:0003155)1.78700220
166Abnormal biliary tract physiology (HP:0012439)1.77646383
167Bile duct proliferation (HP:0001408)1.77646383
168Poor suck (HP:0002033)1.76844218
169Abnormality of the vitamin B12 metabolism (HP:0004341)1.76086861
170Hypotension (HP:0002615)1.75923298
171Generalized muscle weakness (HP:0003324)1.75720843
172Irritability (HP:0000737)1.75278905
173Glomerulosclerosis (HP:0000096)1.74208573
174Agitation (HP:0000713)1.72141702
175Tachypnea (HP:0002789)1.72052005
176Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.71634158
177Broad-based gait (HP:0002136)1.71530555
178Concave nail (HP:0001598)1.71223358
179Metaphyseal dysplasia (HP:0100255)1.69991713
180Cystic liver disease (HP:0006706)1.69887992
181Hyperglycemia (HP:0003074)1.69858687
182Male pseudohermaphroditism (HP:0000037)1.68746077
183Hypophosphatemic rickets (HP:0004912)1.65844970
184Abnormality of serum amino acid levels (HP:0003112)1.62915299
185Enlarged epiphyses (HP:0010580)1.61682502

Predicted kinase interactions (KEA)

RankGene SetZ-score
1WNK49.57596445
2WNK37.88511935
3OXSR17.86588093
4STK395.07541797
5TLK14.85359150
6BCKDK2.78466805
7GRK12.39268834
8ADRBK22.38110177
9VRK22.27940261
10NUAK12.23256901
11STK38L2.21329685
12CASK2.12578068
13STK162.09264325
14MAP4K21.95639899
15WNK11.91007196
16NEK11.84527746
17SGK4941.80397878
18SGK2231.80397878
19PDK41.74968441
20PDK31.74968441
21ZAK1.74036443
22PHKG11.72400110
23PHKG21.72400110
24MUSK1.58962661
25PASK1.56923590
26DYRK21.47829983
27FGFR21.46053418
28MAPK131.40511794
29BMPR1B1.37598628
30MAP3K91.32409167
31PDK21.27113218
32CSNK1G31.22850005
33MAP3K121.19953202
34STK381.18364463
35MAP3K41.17654682
36CSNK1G21.15512588
37MST41.15320051
38ACVR1B1.15255719
39NTRK31.10030112
40TAF11.09726927
41MST1R1.08938923
42MAP2K71.08478976
43BUB10.99801275
44ADRBK10.95761016
45SGK20.94998608
46PLK40.94677964
47VRK10.94262295
48CSNK1A1L0.91970490
49LRRK20.89843115
50SGK30.89212038
51TRIM280.84669217
52CAMK1G0.83892357
53FGFR40.83437360
54TXK0.80708722
55CAMK1D0.74784384
56GSK3A0.70813391
57EPHB10.70038038
58PINK10.69589194
59PLK20.66737028
60IKBKB0.65223444
61GRK60.64542711
62GRK50.63599813
63GRK70.63001526
64TNIK0.61810342
65TIE10.59962038
66MAP2K60.59951297
67MAPKAPK50.58874088
68CAMKK20.57551578
69SGK10.57006262
70MAP3K70.56217725
71CAMK10.55006132
72TGFBR20.52209586
73MAP3K30.52134378
74MARK10.50395938
75ABL20.49598747
76RPS6KA50.49071249
77DYRK1B0.48279342
78PRKCE0.48243093
79CDC70.47781619
80CDK80.47078393
81PAK40.46927238
82PTK20.45558511
83PRKAA10.44313041
84MKNK20.43262971
85MAPK110.41215619
86CSNK1E0.40109415
87DAPK30.39506462
88PKN10.38100327
89INSRR0.37487814
90NME20.37447999
91PRKG10.37397905
92STK100.37260539
93PDPK10.36530789
94TNK20.34634920
95MAPKAPK30.33815361
96PRKD20.33505972
97TAOK30.33055173
98PTK60.32928274
99NTRK20.32028326
100CAMK2D0.31240021
101CSNK2A20.31043910
102PLK30.31031426
103PRKAA20.30626643
104AURKA0.29929630
105ERN10.29840541
106NLK0.29714393
107TGFBR10.29613716
108DYRK30.29206230
109PLK10.28716929
110FER0.28356524
111MAP2K20.28104964
112MET0.27999581
113DYRK1A0.27670802
114PRKCI0.27442421
115PAK30.25807011
116PTK2B0.24807881
117PDK10.23492828
118STK110.23097296
119PRKCZ0.22863987
120NTRK10.21167209
121TRIB30.18363896
122PRKCD0.17416964
123PRKACG0.16941686
124SCYL20.16329108
125RIPK10.15567798
126MAPK150.15532316
127PRKCH0.14915312
128IRAK20.14751101
129PIM10.14509242
130AKT20.13415912
131MAP3K20.13267005
132PRKCA0.10915455
133MYLK0.10626936
134FRK0.10428491
135ERBB40.10305711
136PRKACA0.10139645
137IRAK30.09112524
138MAP3K110.08576846
139BMX0.08551302
140JAK20.08463842
141MAP3K140.08201651
142MINK10.07500330
143MAP2K30.06519664
144MAPK120.05342882
145MAP2K40.04481219
146KDR0.03866363
147EPHA40.03831932
148INSR0.03083846
149LATS10.02828629
150PIK3CG0.02813285
151ROCK10.02740726
152PNCK0.02433956
153IRAK10.02250390
154PRKCG0.02209129
155NME10.00063726
156CAMK4-0.0310378
157PRKACB-0.0299862
158MAP4K1-0.0292837
159DAPK2-0.0248570
160TTK-0.0214548
161CSNK1G1-0.0196765
162CSNK1A1-0.0186429
163PRKD3-0.0184683
164MTOR-0.0162754
165RPS6KA3-0.0161555
166PRKCQ-0.0138384
167MAPK4-0.0066493
168SRC-0.0010273

Predicted pathways (KEGG)

RankGene SetZ-score
1Cyanoamino acid metabolism_Homo sapiens_hsa004603.73114949
2Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049643.69364031
3Butanoate metabolism_Homo sapiens_hsa006503.62861448
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.47466582
5Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.42570426
6Ribosome_Homo sapiens_hsa030103.29562674
7Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006303.19376895
8Propanoate metabolism_Homo sapiens_hsa006403.16597272
9Valine, leucine and isoleucine degradation_Homo sapiens_hsa002803.13543676
10Pentose and glucuronate interconversions_Homo sapiens_hsa000402.98390146
11Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.94254597
12Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.58702426
132-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.56936036
14Collecting duct acid secretion_Homo sapiens_hsa049662.46179915
15Protein export_Homo sapiens_hsa030602.44085000
16Pyruvate metabolism_Homo sapiens_hsa006202.42009079
17Peroxisome_Homo sapiens_hsa041462.39145143
18Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.33837940
19Fatty acid degradation_Homo sapiens_hsa000712.32079995
20RNA polymerase_Homo sapiens_hsa030202.14765237
21Vitamin digestion and absorption_Homo sapiens_hsa049772.13456576
22Tryptophan metabolism_Homo sapiens_hsa003802.13160602
23Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.08488681
24Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.00631932
25beta-Alanine metabolism_Homo sapiens_hsa004101.88953502
26Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.86260813
27Phototransduction_Homo sapiens_hsa047441.72802914
28Fatty acid metabolism_Homo sapiens_hsa012121.71265713
29Carbon metabolism_Homo sapiens_hsa012001.67772878
30Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.67360094
31Sulfur metabolism_Homo sapiens_hsa009201.63787416
32Bile secretion_Homo sapiens_hsa049761.63524411
33Glutathione metabolism_Homo sapiens_hsa004801.61748908
34Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.55529859
35Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.55483802
36Arginine and proline metabolism_Homo sapiens_hsa003301.45478435
37Mineral absorption_Homo sapiens_hsa049781.33348345
38Other glycan degradation_Homo sapiens_hsa005111.33117833
39Protein digestion and absorption_Homo sapiens_hsa049741.32620276
40Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.27094843
41Insulin secretion_Homo sapiens_hsa049111.26398619
42Lysine degradation_Homo sapiens_hsa003101.26171198
43Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.24644869
44Fanconi anemia pathway_Homo sapiens_hsa034601.23768632
45Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.19623584
46Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.18820799
47PPAR signaling pathway_Homo sapiens_hsa033201.17401656
48Homologous recombination_Homo sapiens_hsa034401.17259166
49Starch and sucrose metabolism_Homo sapiens_hsa005001.17128984
50Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.14372170
51Nicotine addiction_Homo sapiens_hsa050331.12965851
52Arginine biosynthesis_Homo sapiens_hsa002201.12596436
53Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.08251965
54Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.06931577
55Folate biosynthesis_Homo sapiens_hsa007901.02672014
56Nitrogen metabolism_Homo sapiens_hsa009101.00485872
57Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.00485845
58Basal transcription factors_Homo sapiens_hsa030220.99941589
59Primary bile acid biosynthesis_Homo sapiens_hsa001200.98821749
60Phenylalanine metabolism_Homo sapiens_hsa003600.98707612
61Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.98315965
62Histidine metabolism_Homo sapiens_hsa003400.97204650
63Biosynthesis of amino acids_Homo sapiens_hsa012300.96071103
64Proteasome_Homo sapiens_hsa030500.93908675
65Purine metabolism_Homo sapiens_hsa002300.93837864
66Linoleic acid metabolism_Homo sapiens_hsa005910.91595738
67RNA degradation_Homo sapiens_hsa030180.91266552
68Regulation of autophagy_Homo sapiens_hsa041400.90263865
69Selenocompound metabolism_Homo sapiens_hsa004500.89538911
70Glycerolipid metabolism_Homo sapiens_hsa005610.87644557
71Oxidative phosphorylation_Homo sapiens_hsa001900.81094912
72Taste transduction_Homo sapiens_hsa047420.80366765
73Fructose and mannose metabolism_Homo sapiens_hsa000510.80253768
74Morphine addiction_Homo sapiens_hsa050320.76674284
75Pyrimidine metabolism_Homo sapiens_hsa002400.76126353
76Renin-angiotensin system_Homo sapiens_hsa046140.73740780
77Vitamin B6 metabolism_Homo sapiens_hsa007500.72688467
78Ether lipid metabolism_Homo sapiens_hsa005650.72061022
79Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.70720377
80Fatty acid elongation_Homo sapiens_hsa000620.70369911
81Carbohydrate digestion and absorption_Homo sapiens_hsa049730.67834641
82Steroid hormone biosynthesis_Homo sapiens_hsa001400.67735661
83Serotonergic synapse_Homo sapiens_hsa047260.66437000
84Cocaine addiction_Homo sapiens_hsa050300.65609010
85Cysteine and methionine metabolism_Homo sapiens_hsa002700.63896550
86Lysosome_Homo sapiens_hsa041420.62967422
87Fat digestion and absorption_Homo sapiens_hsa049750.62905244
88Pentose phosphate pathway_Homo sapiens_hsa000300.62512480
89Circadian entrainment_Homo sapiens_hsa047130.60355677
90Type I diabetes mellitus_Homo sapiens_hsa049400.59895366
91Thyroid hormone synthesis_Homo sapiens_hsa049180.59326674
92Drug metabolism - other enzymes_Homo sapiens_hsa009830.57625679
93Dopaminergic synapse_Homo sapiens_hsa047280.57537213
94Olfactory transduction_Homo sapiens_hsa047400.57282584
95Chemical carcinogenesis_Homo sapiens_hsa052040.56635329
96Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.55917981
97Maturity onset diabetes of the young_Homo sapiens_hsa049500.55595582
98Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.54893725
99Metabolic pathways_Homo sapiens_hsa011000.54179810
100Caffeine metabolism_Homo sapiens_hsa002320.52870230
101GABAergic synapse_Homo sapiens_hsa047270.51818867
102Glycosaminoglycan degradation_Homo sapiens_hsa005310.51696542
103Gastric acid secretion_Homo sapiens_hsa049710.49730216
104Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.49639436
105Parkinsons disease_Homo sapiens_hsa050120.43734757
106Basal cell carcinoma_Homo sapiens_hsa052170.42770615
107Amphetamine addiction_Homo sapiens_hsa050310.42102252
108Retinol metabolism_Homo sapiens_hsa008300.41438502
109Ovarian steroidogenesis_Homo sapiens_hsa049130.41385736
110Glutamatergic synapse_Homo sapiens_hsa047240.40908728
111Steroid biosynthesis_Homo sapiens_hsa001000.40454117
112Vibrio cholerae infection_Homo sapiens_hsa051100.37720778
113ABC transporters_Homo sapiens_hsa020100.35774333
114Arachidonic acid metabolism_Homo sapiens_hsa005900.33766825
115Renin secretion_Homo sapiens_hsa049240.33355650
116Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.33353633
117Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.33035149
118Calcium signaling pathway_Homo sapiens_hsa040200.32369327
119Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.29772381
120Synaptic vesicle cycle_Homo sapiens_hsa047210.28921053
121Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.23510032
122Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.22923250
123Tyrosine metabolism_Homo sapiens_hsa003500.22054158
124Choline metabolism in cancer_Homo sapiens_hsa052310.19194542
125Sphingolipid metabolism_Homo sapiens_hsa006000.17532329
126Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.16816349
127Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.16144142
128Sulfur relay system_Homo sapiens_hsa041220.15050573
129Cardiac muscle contraction_Homo sapiens_hsa042600.13953673
130Alzheimers disease_Homo sapiens_hsa050100.12166091
131Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.11145768
132Adipocytokine signaling pathway_Homo sapiens_hsa049200.10495061
133Inositol phosphate metabolism_Homo sapiens_hsa005620.08239567
134Insulin resistance_Homo sapiens_hsa049310.08010318
135Rheumatoid arthritis_Homo sapiens_hsa053230.06039666
136Galactose metabolism_Homo sapiens_hsa000520.05928383
137AMPK signaling pathway_Homo sapiens_hsa041520.02585764
138Huntingtons disease_Homo sapiens_hsa050160.02561866
139Bladder cancer_Homo sapiens_hsa052190.01193495
140Phagosome_Homo sapiens_hsa04145-0.0888426
141Hedgehog signaling pathway_Homo sapiens_hsa04340-0.0856857
142One carbon pool by folate_Homo sapiens_hsa00670-0.0418905
143Glucagon signaling pathway_Homo sapiens_hsa04922-0.0264313
144alpha-Linolenic acid metabolism_Homo sapiens_hsa00592-0.0243925

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