TRPM6

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 is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1surfactant homeostasis (GO:0043129)9.17172783
2chemical homeostasis within a tissue (GO:0048875)7.12108282
3cell wall macromolecule metabolic process (GO:0044036)6.34016259
4cell wall macromolecule catabolic process (GO:0016998)6.34016259
5fusion of sperm to egg plasma membrane (GO:0007342)6.00127776
6multicellular organism reproduction (GO:0032504)5.23581662
7hemidesmosome assembly (GO:0031581)4.95753088
8acrosome assembly (GO:0001675)4.73446334
9plasma membrane fusion (GO:0045026)4.71323775
10reproduction (GO:0000003)4.69909387
11fucose catabolic process (GO:0019317)4.55986382
12L-fucose metabolic process (GO:0042354)4.55986382
13L-fucose catabolic process (GO:0042355)4.55986382
14regulation of guanylate cyclase activity (GO:0031282)4.55473904
15regulation of triglyceride catabolic process (GO:0010896)4.52537728
16sperm-egg recognition (GO:0035036)4.35646074
17endothelial tube morphogenesis (GO:0061154)4.27848648
18morphogenesis of an endothelium (GO:0003159)4.27848648
19hepatocyte apoptotic process (GO:0097284)4.22228689
20sulfate transmembrane transport (GO:1902358)4.21107176
21lung lobe morphogenesis (GO:0060463)4.20775797
22cilium or flagellum-dependent cell motility (GO:0001539)4.20702359
23interferon-gamma secretion (GO:0072643)4.18193582
24cell-cell recognition (GO:0009988)4.08912227
25mesodermal cell differentiation (GO:0048333)3.98965130
26negative regulation of cell fate specification (GO:0009996)3.98282641
27lymph vessel development (GO:0001945)3.96340563
28phosphate ion transmembrane transport (GO:0035435)3.94160129
29sperm motility (GO:0030317)3.90530985
30positive regulation of guanylate cyclase activity (GO:0031284)3.87260228
31sperm capacitation (GO:0048240)3.86730997
32bundle of His cell to Purkinje myocyte communication (GO:0086069)3.84850086
33UDP-N-acetylglucosamine metabolic process (GO:0006047)3.83583106
34lung vasculature development (GO:0060426)3.71562641
35antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.66785670
36binding of sperm to zona pellucida (GO:0007339)3.63438688
37angiotensin maturation (GO:0002003)3.59208634
38cytidine metabolic process (GO:0046087)3.53237497
39cytidine catabolic process (GO:0006216)3.53237497
40cytidine deamination (GO:0009972)3.53237497
41trivalent inorganic anion homeostasis (GO:0072506)3.51331530
42phosphate ion homeostasis (GO:0055062)3.51331530
43phosphate ion transport (GO:0006817)3.50426891
44sulfate transport (GO:0008272)3.36049514
45axonemal dynein complex assembly (GO:0070286)3.35229108
46alkaloid metabolic process (GO:0009820)3.33506457
47O-glycan processing (GO:0016266)3.33092184
48renal system process involved in regulation of blood volume (GO:0001977)3.32300695
49pattern specification involved in kidney development (GO:0061004)3.31064016
50epithelial cell-cell adhesion (GO:0090136)3.27464703
51transepithelial transport (GO:0070633)3.24221239
52pyrimidine ribonucleoside catabolic process (GO:0046133)3.23294022
53cell adhesion mediated by integrin (GO:0033627)3.22627681
54motile cilium assembly (GO:0044458)3.21810480
55tight junction assembly (GO:0070830)3.21778212
56piRNA metabolic process (GO:0034587)3.19527604
57negative regulation of cell killing (GO:0031342)3.19294582
58negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.19294582
59intestinal epithelial cell development (GO:0060576)3.14887914
60negative regulation of cAMP-mediated signaling (GO:0043951)3.14873972
61microglial cell activation (GO:0001774)3.10992304
62growth hormone receptor signaling pathway (GO:0060396)3.10541866
63respiratory tube development (GO:0030323)3.10518917
64DNA deamination (GO:0045006)3.08135846
65intestinal absorption (GO:0050892)3.07327750
66lipoprotein transport (GO:0042953)3.06489314
67negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)3.06280940
68sodium-independent organic anion transport (GO:0043252)3.04433403
69sulfation (GO:0051923)3.00992224
70bile acid and bile salt transport (GO:0015721)3.00872020
71venous blood vessel morphogenesis (GO:0048845)3.00512113
72cellular response to interleukin-15 (GO:0071350)2.99165777
73organic cation transport (GO:0015695)2.98838638
74peptide catabolic process (GO:0043171)2.97816847
75negative regulation of protein autophosphorylation (GO:0031953)2.93176459
76mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)2.92211398
77regulation of protein glycosylation (GO:0060049)2.91853444
78epithelial cell differentiation involved in prostate gland development (GO:0060742)2.90849275
79phospholipid translocation (GO:0045332)2.90779513
80lipid translocation (GO:0034204)2.90779513
81acrosome reaction (GO:0007340)2.90521470
82negative regulation of cell fate commitment (GO:0010454)2.89913921
83positive regulation of pseudopodium assembly (GO:0031274)2.89619729
84modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.89369056
85positive regulation by organism of defense response of other organism involved in symbiotic interact2.89369056
86modulation by symbiont of host immune response (GO:0052553)2.89369056
87positive regulation by symbiont of host defense response (GO:0052509)2.89369056
88modulation by symbiont of host defense response (GO:0052031)2.89369056
89modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.89369056
90epoxygenase P450 pathway (GO:0019373)2.88370811
91cellular response to nitric oxide (GO:0071732)2.88050738
92regulation of interferon-beta biosynthetic process (GO:0045357)2.87752280
93positive regulation of endothelial cell differentiation (GO:0045603)2.85416180
94regulation of endothelial cell differentiation (GO:0045601)2.85098227
95single fertilization (GO:0007338)2.83363045
96positive regulation of osteoblast proliferation (GO:0033690)2.83244334
97regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.82658651
98cellular response to growth hormone stimulus (GO:0071378)2.82298097
99sexual reproduction (GO:0019953)2.82056424
100drug metabolic process (GO:0017144)2.81039668
101endocardial cushion development (GO:0003197)2.80427403
102proline transport (GO:0015824)2.80149018
103regulation of cardioblast differentiation (GO:0051890)2.79595612
104high-density lipoprotein particle remodeling (GO:0034375)2.79051132
105epithelial cilium movement (GO:0003351)2.78849545
106phosphatidylinositol acyl-chain remodeling (GO:0036149)2.77541705
107actin filament depolymerization (GO:0030042)2.76430318
108hypotonic response (GO:0006971)2.76150072
109renal system development (GO:0072001)2.75661339
110drug catabolic process (GO:0042737)2.75638649
111endothelial cell morphogenesis (GO:0001886)2.74352771
112indolalkylamine metabolic process (GO:0006586)2.71712580
113regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)2.69953294
114spermatid development (GO:0007286)2.69025707
115bicarbonate transport (GO:0015701)2.69002643
116purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.68496266
1173-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.68496266
118retina vasculature morphogenesis in camera-type eye (GO:0061299)2.68271154
119blood vessel maturation (GO:0001955)2.67836948
120dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.67748096
121regulation of chemokine secretion (GO:0090196)2.67286576
122calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)2.67270302
123positive regulation of T cell mediated cytotoxicity (GO:0001916)2.67267299
124regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.66874352
125antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.66356507
126regulation of cell fate specification (GO:0042659)2.66318766
127photoreceptor cell maintenance (GO:0045494)2.65860114
128phospholipid efflux (GO:0033700)2.64996504
129negative regulation of interleukin-1 production (GO:0032692)2.64869272
130excretion (GO:0007588)2.63868118
131exogenous drug catabolic process (GO:0042738)2.63269390
132regulation of glomerular filtration (GO:0003093)2.62082700
133regulation of memory T cell differentiation (GO:0043380)2.61574691
134regulation of cGMP biosynthetic process (GO:0030826)2.61534303
135macrophage activation involved in immune response (GO:0002281)2.61213792
136sulfur compound transport (GO:0072348)2.61098777
137flavonoid metabolic process (GO:0009812)2.60210199
138positive regulation of fatty acid transport (GO:2000193)2.59898199
139neutrophil activation (GO:0042119)2.59479364
140behavioral response to nicotine (GO:0035095)2.58223150
141fucosylation (GO:0036065)2.57909491
142carnitine transport (GO:0015879)2.57523526
143amino-acid betaine transport (GO:0015838)2.57523526
144regulation of T cell mediated cytotoxicity (GO:0001914)2.57289094
145maintenance of gastrointestinal epithelium (GO:0030277)2.56984264
146adaptation of signaling pathway (GO:0023058)2.56646350
147DNA demethylation (GO:0080111)2.56110095
148establishment of protein localization to Golgi (GO:0072600)2.54864924
149cilium movement (GO:0003341)2.53217571
150regulation of B cell receptor signaling pathway (GO:0050855)2.52925406
151reverse cholesterol transport (GO:0043691)2.52883167
152cell-cell junction assembly (GO:0007043)2.51405987
153renal system process involved in regulation of systemic arterial blood pressure (GO:0003071)2.51247247
154desmosome organization (GO:0002934)2.50980239
155endothelial cell chemotaxis (GO:0035767)2.50194670
156dendritic cell migration (GO:0036336)2.50015177
157embryonic foregut morphogenesis (GO:0048617)2.49745042
158pyrimidine-containing compound transmembrane transport (GO:0072531)2.49379194
159digestion (GO:0007586)2.49243133
160disruption of cells of other organism (GO:0044364)2.49123802
161killing of cells of other organism (GO:0031640)2.49123802
162response to interleukin-15 (GO:0070672)2.48455370
163cell-substrate junction assembly (GO:0007044)2.46912511
164regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.46572761
165indole-containing compound catabolic process (GO:0042436)2.46069057
166indolalkylamine catabolic process (GO:0046218)2.46069057
167tryptophan catabolic process (GO:0006569)2.46069057
168lung secretory cell differentiation (GO:0061140)2.45544201
169nucleotide transmembrane transport (GO:1901679)2.45389800
170branching involved in salivary gland morphogenesis (GO:0060445)2.44832440
171negative regulation of interleukin-1 beta production (GO:0032691)2.44553380
172neural tube formation (GO:0001841)2.44206118
173phospholipid homeostasis (GO:0055091)2.43266944
174regulation of hippo signaling (GO:0035330)2.42969142
175antigen processing and presentation of endogenous antigen (GO:0019883)2.42798430
176positive regulation of glycoprotein biosynthetic process (GO:0010560)2.42756332
177positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.42500493
178thrombin receptor signaling pathway (GO:0070493)2.42389312
179glycerol metabolic process (GO:0006071)2.41287704
180response to pheromone (GO:0019236)2.40707390
181regulation of pseudopodium assembly (GO:0031272)2.40193940
182leukotriene metabolic process (GO:0006691)2.39229874
183DNA methylation involved in gamete generation (GO:0043046)2.39090038
184platelet dense granule organization (GO:0060155)2.38963243
185phosphatidylcholine acyl-chain remodeling (GO:0036151)2.38120209
186establishment of endothelial barrier (GO:0061028)2.37588081
187positive regulation of toll-like receptor signaling pathway (GO:0034123)2.35401219
188protein targeting to Golgi (GO:0000042)2.34159695
189positive regulation of icosanoid secretion (GO:0032305)2.33862193
190neutrophil mediated immunity (GO:0002446)2.33617278
191protein K11-linked deubiquitination (GO:0035871)2.33506141
192rRNA catabolic process (GO:0016075)2.33266753
193NAD biosynthetic process (GO:0009435)2.32693039
194axoneme assembly (GO:0035082)2.31890169
195quinone biosynthetic process (GO:1901663)2.30310350
196regulation of regulatory T cell differentiation (GO:0045589)2.29674223

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human4.17947246
2TRIM28_21343339_ChIP-Seq_HEK293_Human3.21208443
3TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.16886532
4IRF8_22096565_ChIP-ChIP_GC-B_Human3.08788944
5ZNF274_21170338_ChIP-Seq_K562_Hela2.91231231
6VDR_22108803_ChIP-Seq_LS180_Human2.87375601
7ESR1_21235772_ChIP-Seq_MCF-7_Human2.76735677
8SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.64642003
9* CDX2_19796622_ChIP-Seq_MESCs_Mouse2.57576023
10ESR2_21235772_ChIP-Seq_MCF-7_Human2.52864665
11ESR1_20079471_ChIP-ChIP_T-47D_Human2.50196174
12RARG_19884340_ChIP-ChIP_MEFs_Mouse2.48090684
13* PPAR_26484153_Chip-Seq_NCI-H1993_Human2.46201012
14CDX2_20551321_ChIP-Seq_CACO-2_Human2.42901828
15SOX2_27498859_Chip-Seq_STOMACH_Mouse2.26937911
16FOXO3_23340844_ChIP-Seq_DLD1_Human2.25679622
17GATA4_25053715_ChIP-Seq_YYC3_Human2.12648821
18STAT6_21828071_ChIP-Seq_BEAS2B_Human2.12281510
19FLI1_27457419_Chip-Seq_LIVER_Mouse2.10988365
20POU3F2_20337985_ChIP-ChIP_501MEL_Human2.03012782
21GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.01300600
22SOX2_20726797_ChIP-Seq_SW620_Human1.99979153
23FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.98680358
24TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.96243655
25SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.93321347
26IRF8_21731497_ChIP-ChIP_J774_Mouse1.88138789
27GBX2_23144817_ChIP-Seq_PC3_Human1.85385037
28ZFP57_27257070_Chip-Seq_ESCs_Mouse1.84750324
29* GATA2_21666600_ChIP-Seq_HMVEC_Human1.82301755
30PCGF2_27294783_Chip-Seq_ESCs_Mouse1.79510961
31EGR1_23403033_ChIP-Seq_LIVER_Mouse1.79464929
32SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.74866989
33SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.74866989
34ER_23166858_ChIP-Seq_MCF-7_Human1.74586905
35SALL4_18804426_ChIP-ChIP_XEN_Mouse1.70855331
36ZNF217_24962896_ChIP-Seq_MCF-7_Human1.70582516
37IGF1R_20145208_ChIP-Seq_DFB_Human1.69672113
38ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.69419204
39P300_19829295_ChIP-Seq_ESCs_Human1.68379944
40RUNX1_27514584_Chip-Seq_MCF-7_Human1.67723071
41NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.67485525
42AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.65264105
43CLOCK_20551151_ChIP-Seq_293T_Human1.64129612
44* LXR_22158963_ChIP-Seq_LIVER_Mouse1.62057998
45MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.61307449
46CJUN_26792858_Chip-Seq_BT549_Human1.60864017
47EP300_21415370_ChIP-Seq_HL-1_Mouse1.57573638
48GATA6_25053715_ChIP-Seq_YYC3_Human1.56863593
49HIF1A_21447827_ChIP-Seq_MCF-7_Human1.56722467
50KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.53474156
51* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.49697181
52ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.49445611
53PCGF2_27294783_Chip-Seq_NPCs_Mouse1.49396339
54CTBP2_25329375_ChIP-Seq_LNCAP_Human1.48361617
55* EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.46314383
56SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.45109390
57* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.43928833
58RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.43793032
59TCF4_18268006_ChIP-ChIP_LS174T_Human1.43690423
60SUZ12_27294783_Chip-Seq_NPCs_Mouse1.42849630
61AR_21909140_ChIP-Seq_LNCAP_Human1.42691658
62FOXA1_21572438_ChIP-Seq_LNCaP_Human1.42332833
63AHR_22903824_ChIP-Seq_MCF-7_Human1.41433026
64FOXA1_27270436_Chip-Seq_PROSTATE_Human1.41372378
65FOXA1_25329375_ChIP-Seq_VCAP_Human1.41372378
66NFE2_27457419_Chip-Seq_LIVER_Mouse1.39729066
67KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.38430143
68PRDM14_20953172_ChIP-Seq_ESCs_Human1.37991735
69STAT3_23295773_ChIP-Seq_U87_Human1.37795333
70TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.37600460
71TCF4_22108803_ChIP-Seq_LS180_Human1.37254441
72ETV2_25802403_ChIP-Seq_MESCs_Mouse1.37169885
73FOXM1_26456572_ChIP-Seq_MCF-7_Human1.37122985
74NR3C1_21868756_ChIP-Seq_MCF10A_Human1.36492455
75PIAS1_25552417_ChIP-Seq_VCAP_Human1.34083045
76GATA3_26560356_Chip-Seq_TH2_Human1.33862637
77Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.32402875
78TCF4_23295773_ChIP-Seq_U87_Human1.30762052
79EZH2_27294783_Chip-Seq_NPCs_Mouse1.30244655
80IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.29833691
81CBP_20019798_ChIP-Seq_JUKART_Human1.29833691
82JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.29527193
83KLF5_25053715_ChIP-Seq_YYC3_Human1.28865466
84JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.28133315
85TP53_22573176_ChIP-Seq_HFKS_Human1.27813345
86* CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.27715973
87SOX2_19829295_ChIP-Seq_ESCs_Human1.27349746
88NANOG_19829295_ChIP-Seq_ESCs_Human1.27349746
89LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.26494446
90NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.26321628
91TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.25780033
92SOX9_24532713_ChIP-Seq_HFSC_Mouse1.25648941
93GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.24586230
94IRF1_19129219_ChIP-ChIP_H3396_Human1.24125569
95CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.24060472
96RUNX_20019798_ChIP-Seq_JUKART_Human1.23955434
97AR_25329375_ChIP-Seq_VCAP_Human1.22743683
98ZNF263_19887448_ChIP-Seq_K562_Human1.22271732
99GATA3_21878914_ChIP-Seq_MCF-7_Human1.22157750
100STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.22151822
101CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.21330886
102TBX20_22080862_ChIP-Seq_HEART_Mouse1.21307356
103TBX20_22328084_ChIP-Seq_HEART_Mouse1.21307356
104TAF15_26573619_Chip-Seq_HEK293_Human1.20861774
105AR_20517297_ChIP-Seq_VCAP_Human1.20668485
106GATA1_22025678_ChIP-Seq_K562_Human1.20157430
107PPARA_22158963_ChIP-Seq_LIVER_Mouse1.19340347
108NFIB_24661679_ChIP-Seq_LUNG_Mouse1.18442069
109SMAD_19615063_ChIP-ChIP_OVARY_Human1.17314753
110RACK7_27058665_Chip-Seq_MCF-7_Human1.16084260
111PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.15731069
112SMAD4_21799915_ChIP-Seq_A2780_Human1.15319502
113POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.15300071
114TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15300071
115FUS_26573619_Chip-Seq_HEK293_Human1.14970605
116FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.14660558
117KLF5_20875108_ChIP-Seq_MESCs_Mouse1.14166210
118RXR_22158963_ChIP-Seq_LIVER_Mouse1.14165617
119MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.13908482
120FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.13676253
121NCOR_22424771_ChIP-Seq_293T_Human1.12635296
122NANOG_20526341_ChIP-Seq_ESCs_Human1.11968159
123* SMRT_27268052_Chip-Seq_Bcells_Human1.10915105
124AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.10495720
125SMAD3_21741376_ChIP-Seq_HESCs_Human1.10488389
126NOTCH1_21737748_ChIP-Seq_TLL_Human1.09847339
127FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.09418742
128IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.09371936
129CRX_20693478_ChIP-Seq_RETINA_Mouse1.09058475
130CDX2_22108803_ChIP-Seq_LS180_Human1.08965114
131FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.08434764
132TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human1.07537890
133CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.07445063
134SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.06732953
135OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.06638681
136SMAD3_21741376_ChIP-Seq_EPCs_Human1.06127033
137TOP2B_26459242_ChIP-Seq_MCF-7_Human1.06039339
138CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.05606100
139* AUTS2_25519132_ChIP-Seq_293T-REX_Human1.04891286
140ARNT_22903824_ChIP-Seq_MCF-7_Human1.04517519
141ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.04514453
142GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.04133404
143RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.03950644
144SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.03452792
145STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.03403572
146P53_22387025_ChIP-Seq_ESCs_Mouse1.03318843
147NANOG_18555785_Chip-Seq_ESCs_Mouse1.03214100
148PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.02776350
149CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.02063402
150TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.01696259
151* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.01631070
152GATA3_24758297_ChIP-Seq_MCF-7_Human1.01357015
153TP53_16413492_ChIP-PET_HCT116_Human1.01295116
154PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.01290617
155RUNX2_22187159_ChIP-Seq_PCA_Human1.01286805
156ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.99452092
157* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.98899353
158TP63_23658742_ChIP-Seq_EP156T_Human0.96806673
159FOXA2_19822575_ChIP-Seq_HepG2_Human0.95444266
160IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.95150420
161SALL1_21062744_ChIP-ChIP_HESCs_Human0.94188861
162GATA2_19941826_ChIP-Seq_K562_Human0.93207850
163ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.93162323
164PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.91670615
165ATF3_27146783_Chip-Seq_COLON_Human0.90188641
166P63_26484246_Chip-Seq_KERATINOCYTES_Human0.88254519
167STAT3_20064451_ChIP-Seq_CD4+T_Mouse0.84953098
168EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.83946184
169* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.83735206
170EGR1_19032775_ChIP-ChIP_M12_Human0.83330146
171ELK3_25401928_ChIP-Seq_HUVEC_Human0.82733750
172PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.81063047
173TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.76091674
174VDR_24787735_ChIP-Seq_THP-1_Human0.75920176
175BCAT_22108803_ChIP-Seq_LS180_Human0.74384843
176EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.73369460
177CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.73217721
178GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.72970968
179STAT3_1855785_ChIP-Seq_MESCs_Mouse0.72926892
180IKZF1_21737484_ChIP-ChIP_HCT116_Human0.72732786
181ISL1_27105846_Chip-Seq_CPCs_Mouse0.70732943

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004782_abnormal_surfactant_physiolog4.72074648
2MP0001958_emphysema4.20905039
3MP0010234_abnormal_vibrissa_follicle3.85028859
4MP0005410_abnormal_fertilization3.24890494
5MP0005167_abnormal_blood-brain_barrier3.20364410
6MP0004147_increased_porphyrin_level3.02977104
7MP0003183_abnormal_peptide_metabolism3.02724958
8MP0010368_abnormal_lymphatic_system2.86374259
9MP0004264_abnormal_extraembryonic_tissu2.55461274
10MP0008877_abnormal_DNA_methylation2.39885953
11MP0000569_abnormal_digit_pigmentation2.38325069
12MP0002138_abnormal_hepatobiliary_system2.37319140
13MP0004272_abnormal_basement_membrane2.34206290
14MP0005275_abnormal_skin_tensile2.23625175
15MP0006054_spinal_hemorrhage2.21954020
16MP0003566_abnormal_cell_adhesion2.21288250
17MP0003300_gastrointestinal_ulcer2.18507024
18MP0003195_calcinosis2.13278160
19MP0010352_gastrointestinal_tract_polyps2.13260671
20MP0001986_abnormal_taste_sensitivity2.08734865
21MP0003705_abnormal_hypodermis_morpholog2.08579679
22MP0008875_abnormal_xenobiotic_pharmacok2.08168816
23MP0008438_abnormal_cutaneous_collagen2.03350111
24MP0003878_abnormal_ear_physiology2.01154068
25MP0005377_hearing/vestibular/ear_phenot2.01154068
26MP0002876_abnormal_thyroid_physiology1.98293213
27MP0003866_abnormal_defecation1.97961061
28MP0002277_abnormal_respiratory_mucosa1.92271107
29MP0003787_abnormal_imprinting1.91266932
30MP0005623_abnormal_meninges_morphology1.86989797
31MP0001501_abnormal_sleep_pattern1.84585438
32MP0000537_abnormal_urethra_morphology1.82652945
33MP0002295_abnormal_pulmonary_circulatio1.81959980
34MP0003724_increased_susceptibility_to1.74420723
35MP0008872_abnormal_physiological_respon1.73766881
36MP0009785_altered_susceptibility_to1.73683327
37MP0000427_abnormal_hair_cycle1.72907004
38* MP0001765_abnormal_ion_homeostasis1.71911077
39MP0006082_CNS_inflammation1.71138778
40MP0001879_abnormal_lymphatic_vessel1.68806106
41MP0010678_abnormal_skin_adnexa1.68511433
42MP0010155_abnormal_intestine_physiology1.68470467
43MP0009384_cardiac_valve_regurgitation1.68154670
44MP0002796_impaired_skin_barrier1.67204794
45MP0008004_abnormal_stomach_pH1.67131276
46MP0010329_abnormal_lipoprotein_level1.66623119
47MP0001835_abnormal_antigen_presentation1.65222138
48MP0000462_abnormal_digestive_system1.61310838
49MP0005671_abnormal_response_to1.60921138
50MP0009840_abnormal_foam_cell1.58957546
51MP0008995_early_reproductive_senescence1.56437772
52MP0001666_abnormal_nutrient_absorption1.56174794
53MP0005551_abnormal_eye_electrophysiolog1.54679078
54MP0009764_decreased_sensitivity_to1.52826185
55MP0001800_abnormal_humoral_immune1.50287490
56MP0001485_abnormal_pinna_reflex1.46173348
57MP0001177_atelectasis1.45621526
58MP0005085_abnormal_gallbladder_physiolo1.45135593
59MP0005174_abnormal_tail_pigmentation1.43857060
60MP0005388_respiratory_system_phenotype1.43771799
61MP0002133_abnormal_respiratory_system1.43771799
62MP0009643_abnormal_urine_homeostasis1.40516149
63MP0005645_abnormal_hypothalamus_physiol1.40030107
64MP0005310_abnormal_salivary_gland1.39770003
65MP0001764_abnormal_homeostasis1.38144964
66MP0000015_abnormal_ear_pigmentation1.36494605
67MP0003252_abnormal_bile_duct1.35920649
68MP0005503_abnormal_tendon_morphology1.32596398
69MP0003283_abnormal_digestive_organ1.30730083
70MP0002136_abnormal_kidney_physiology1.27528965
71MP0002060_abnormal_skin_morphology1.27277475
72MP0002102_abnormal_ear_morphology1.26394614
73MP0005025_abnormal_response_to1.25094138
74MP0001968_abnormal_touch/_nociception1.24983152
75MP0003091_abnormal_cell_migration1.24934397
76MP0003191_abnormal_cellular_cholesterol1.24407482
77MP0002723_abnormal_immune_serum1.21306546
78MP0003115_abnormal_respiratory_system1.20129953
79MP0000230_abnormal_systemic_arterial1.19762090
80MP0000477_abnormal_intestine_morphology1.19439982
81MP0004019_abnormal_vitamin_homeostasis1.19394545
82MP0004043_abnormal_pH_regulation1.19359150
83MP0002254_reproductive_system_inflammat1.19283039
84MP0001873_stomach_inflammation1.18317799
85MP0005023_abnormal_wound_healing1.18299993
86MP0001664_abnormal_digestion1.18243866
87MP0002098_abnormal_vibrissa_morphology1.15970607
88MP0001790_abnormal_immune_system1.15131057
89MP0005387_immune_system_phenotype1.15131057
90MP0000685_abnormal_immune_system1.14773202
91MP0005365_abnormal_bile_salt1.11450609
92MP0003453_abnormal_keratinocyte_physiol1.10903759
93MP0002419_abnormal_innate_immunity1.10898007
94MP0003436_decreased_susceptibility_to1.08823752
95MP0004885_abnormal_endolymph1.07060397
96MP0001845_abnormal_inflammatory_respons1.06461726
97MP0003646_muscle_fatigue1.06350870
98MP0002452_abnormal_antigen_presenting1.05621691
99MP0000383_abnormal_hair_follicle1.05286349
100MP0002148_abnormal_hypersensitivity_rea1.04542318
101* MP0005636_abnormal_mineral_homeostasis1.04452689
102MP0002132_abnormal_respiratory_system1.04249978
103MP0001849_ear_inflammation1.03941478
104MP0003045_fibrosis1.03652525
105MP0005075_abnormal_melanosome_morpholog1.03612298
106MP0001819_abnormal_immune_cell1.03508182
107MP0002420_abnormal_adaptive_immunity1.03186789
108MP0000465_gastrointestinal_hemorrhage1.02469639
109MP0002139_abnormal_hepatobiliary_system1.01977608
110MP0000490_abnormal_crypts_of1.01498912
111MP0001486_abnormal_startle_reflex1.00203334
112MP0005360_urolithiasis0.99961727
113MP0005000_abnormal_immune_tolerance0.99762500
114MP0005166_decreased_susceptibility_to0.98096644
115MP0005501_abnormal_skin_physiology0.97756702
116MP0000534_abnormal_ureter_morphology0.96993713
117MP0002909_abnormal_adrenal_gland0.95330412
118MP0001663_abnormal_digestive_system0.95278826
119MP0001756_abnormal_urination0.94747547
120MP0005381_digestive/alimentary_phenotyp0.93985982
121MP0005084_abnormal_gallbladder_morpholo0.92710943
122MP0004142_abnormal_muscle_tone0.92560005
123MP0000249_abnormal_blood_vessel0.92148491
124MP0004084_abnormal_cardiac_muscle0.91161505
125MP0002877_abnormal_melanocyte_morpholog0.90809863
126MP0000343_altered_response_to0.88146728
127MP0002928_abnormal_bile_duct0.87920740
128MP0005448_abnormal_energy_balance0.87783612
129MP0002822_catalepsy0.87783055
130MP0004742_abnormal_vestibular_system0.87085100
131MP0002118_abnormal_lipid_homeostasis0.85878726
132MP0002693_abnormal_pancreas_physiology0.84971299
133MP0003943_abnormal_hepatobiliary_system0.83855717
134MP0002168_other_aberrant_phenotype0.83532573
135MP0005083_abnormal_biliary_tract0.83258120
136MP0002736_abnormal_nociception_after0.82931856
137MP0002272_abnormal_nervous_system0.81563343
138MP0009745_abnormal_behavioral_response0.81472954
139MP0003806_abnormal_nucleotide_metabolis0.81019526
140MP0008469_abnormal_protein_level0.80514643
141MP0004947_skin_inflammation0.80137902
142MP0002282_abnormal_trachea_morphology0.79492340
143MP0005535_abnormal_body_temperature0.79395668
144MP0003718_maternal_effect0.78959256
145MP0002234_abnormal_pharynx_morphology0.78687655
146MP0005408_hypopigmentation0.78562632
147MP0003868_abnormal_feces_composition0.78260174
148MP0002733_abnormal_thermal_nociception0.77661566
149MP0002135_abnormal_kidney_morphology0.76588100
150MP0001175_abnormal_lung_morphology0.76028846
151MP0003879_abnormal_hair_cell0.75587228
152MP0005165_increased_susceptibility_to0.75533932
153MP0004484_altered_response_of0.72301178
154MP0000538_abnormal_urinary_bladder0.71341217
155MP0002095_abnormal_skin_pigmentation0.70735428
156MP0003448_altered_tumor_morphology0.70713296
157MP0003303_peritoneal_inflammation0.70009825
158MP0002166_altered_tumor_susceptibility0.69885091
159MP0001216_abnormal_epidermal_layer0.69869768
160MP0000716_abnormal_immune_system0.69515520
161MP0000470_abnormal_stomach_morphology0.68717895
162MP0005332_abnormal_amino_acid0.66111273
163MP0002925_abnormal_cardiovascular_devel0.65673935
164MP0002998_abnormal_bone_remodeling0.65545961
165MP0004883_abnormal_blood_vessel0.64473706
166MP0005164_abnormal_response_to0.64463662
167MP0002896_abnormal_bone_mineralization0.64364153
168MP0003279_aneurysm0.63777331
169MP0010771_integument_phenotype0.63600163
170MP0003698_abnormal_male_reproductive0.63344484

Predicted human phenotypes

RankGene SetZ-score
1Interstitial pulmonary disease (HP:0006530)6.73185025
2Hyperactive renin-angiotensin system (HP:0000841)6.31680678
3Chronic bronchitis (HP:0004469)5.36646991
4Respiratory insufficiency due to defective ciliary clearance (HP:0200073)4.72119570
5Abnormality of chloride homeostasis (HP:0011422)4.65172912
6Abnormality of the nasal mucosa (HP:0000433)4.42025785
7Gout (HP:0001997)3.99450913
8Right ventricular cardiomyopathy (HP:0011663)3.82281278
9Dynein arm defect of respiratory motile cilia (HP:0012255)3.77987023
10Absent/shortened dynein arms (HP:0200106)3.77987023
11Tubulointerstitial fibrosis (HP:0005576)3.63606214
12Abnormality of renin-angiotensin system (HP:0000847)3.57750596
13Abnormality of glutamine family amino acid metabolism (HP:0010902)3.49015250
14Stomatitis (HP:0010280)3.47203251
15Metabolic alkalosis (HP:0200114)3.45527728
16Renal salt wasting (HP:0000127)3.38278591
17Bronchitis (HP:0012387)3.37385653
18Onycholysis (HP:0001806)3.33746466
19Nasal polyposis (HP:0100582)3.29663280
20Polycythemia (HP:0001901)3.23845568
21Subacute progressive viral hepatitis (HP:0006572)3.21872394
22Hyperaldosteronism (HP:0000859)3.19453638
23Retrobulbar optic neuritis (HP:0100654)3.17925334
24Optic neuritis (HP:0100653)3.17925334
25Milia (HP:0001056)3.17338212
26Stomach cancer (HP:0012126)3.16541597
27Esophageal varix (HP:0002040)3.16251450
28Orchitis (HP:0100796)3.15386530
29Abnormality of vitamin B metabolism (HP:0004340)3.10969316
30Micronodular cirrhosis (HP:0001413)3.04911196
31Abnormality of the vitamin B12 metabolism (HP:0004341)3.00871553
32Myositis (HP:0100614)2.99026690
33Pancreatic cysts (HP:0001737)2.97568080
34Abnormality of the distal phalanx of the thumb (HP:0009617)2.95636180
35Ileus (HP:0002595)2.92607995
36Visceral angiomatosis (HP:0100761)2.90783666
37Abnormal respiratory motile cilium physiology (HP:0012261)2.86014860
38Aortic aneurysm (HP:0004942)2.82799703
39Atrophic scars (HP:0001075)2.81560174
40Congenital sensorineural hearing impairment (HP:0008527)2.77873172
41Hypokalemic alkalosis (HP:0001949)2.75979446
42Elevated erythrocyte sedimentation rate (HP:0003565)2.74511551
43Abnormality of proline metabolism (HP:0010907)2.71769113
44Hydroxyprolinuria (HP:0003080)2.71769113
45Congenital stationary night blindness (HP:0007642)2.71002390
46Rectal prolapse (HP:0002035)2.70230503
47Abnormality of the renal cortex (HP:0011035)2.68155778
48Hematochezia (HP:0002573)2.63267099
49Flat acetabular roof (HP:0003180)2.61771500
50Bronchiectasis (HP:0002110)2.60955666
51Hemangiomatosis (HP:0007461)2.59794948
52Hypobetalipoproteinemia (HP:0003563)2.55653169
53Pigmentary retinal degeneration (HP:0001146)2.52594654
54Focal segmental glomerulosclerosis (HP:0000097)2.50130385
55Cardiovascular calcification (HP:0011915)2.49943001
56Tubular atrophy (HP:0000092)2.48620258
57Attenuation of retinal blood vessels (HP:0007843)2.47790423
58Glomerulosclerosis (HP:0000096)2.46164356
59Abnormal rod and cone electroretinograms (HP:0008323)2.45543212
60Tachypnea (HP:0002789)2.45459236
61Abolished electroretinogram (ERG) (HP:0000550)2.45154178
62Hyperventilation (HP:0002883)2.43355037
63Molar tooth sign on MRI (HP:0002419)2.42920885
64Abnormality of midbrain morphology (HP:0002418)2.42920885
65Hyperkalemia (HP:0002153)2.42132312
66True hermaphroditism (HP:0010459)2.42047363
67Respiratory distress (HP:0002098)2.41511255
68Broad metatarsal (HP:0001783)2.41044616
69Keratoconjunctivitis (HP:0001096)2.40578309
70Recurrent fungal infections (HP:0002841)2.40156415
71Hyperglycinuria (HP:0003108)2.37849926
72Tubulointerstitial abnormality (HP:0001969)2.35095168
73Pancreatic fibrosis (HP:0100732)2.34950061
74Fragile nails (HP:0001808)2.34737573
75Eczematoid dermatitis (HP:0000976)2.33508295
76Vascular calcification (HP:0004934)2.33210762
77Rhinitis (HP:0012384)2.31183221
78Cerebral aneurysm (HP:0004944)2.30760267
79Absent rod-and cone-mediated responses on ERG (HP:0007688)2.29999381
80Facial shape deformation (HP:0011334)2.29360382
81Potter facies (HP:0002009)2.29360382
82Ulnar bowing (HP:0003031)2.29344849
83Malnutrition (HP:0004395)2.29206679
84Hyperuricemia (HP:0002149)2.27400504
85Increased purine levels (HP:0004368)2.27400504
86Abnormal respiratory motile cilium morphology (HP:0005938)2.27259765
87Abnormal respiratory epithelium morphology (HP:0012253)2.27259765
88Aortic dissection (HP:0002647)2.22330198
89Abnormal ciliary motility (HP:0012262)2.21822370
90Decreased circulating renin level (HP:0003351)2.21494286
91Alkalosis (HP:0001948)2.21267134
92Abnormal delayed hypersensitivity skin test (HP:0002963)2.20275491
93Abnormality of T cell number (HP:0011839)2.19646624
94Renal cortical cysts (HP:0000803)2.19097501
95Glycosuria (HP:0003076)2.19027836
96Abnormality of urine glucose concentration (HP:0011016)2.19027836
97Pili torti (HP:0003777)2.18214459
98Abnormality of the 2nd finger (HP:0004100)2.18154634
99Recurrent bacterial skin infections (HP:0005406)2.17663281
100Encephalitis (HP:0002383)2.16979379
101Abdominal distention (HP:0003270)2.16553823
102Recurrent cutaneous fungal infections (HP:0011370)2.16513491
103Chronic mucocutaneous candidiasis (HP:0002728)2.16513491
104Confusion (HP:0001289)2.16208146
105Abnormal drinking behavior (HP:0030082)2.15210373
106Polydipsia (HP:0001959)2.15210373
107Thyroiditis (HP:0100646)2.15022259
108Decreased electroretinogram (ERG) amplitude (HP:0000654)2.13815693
109Infertility (HP:0000789)2.13176259
110Widely patent fontanelles and sutures (HP:0004492)2.12114396
111Abnormality of renal excretion (HP:0011036)2.11545396
112Abnormality of the vasculature of the conjunctiva (HP:0008054)2.10301251
113Keratoconjunctivitis sicca (HP:0001097)2.09517723
114Chronic hepatic failure (HP:0100626)2.08579888
115Hypothermia (HP:0002045)2.08233346
116Osteolytic defects of the hand bones (HP:0009699)2.06357670
117Osteolytic defects of the phalanges of the hand (HP:0009771)2.06357670
118Gastrointestinal infarctions (HP:0005244)2.05417077
119Nephronophthisis (HP:0000090)2.05304930
120Abnormality of potassium homeostasis (HP:0011042)2.04943870
121Recurrent bronchitis (HP:0002837)2.04544760
122Abnormality of glycine metabolism (HP:0010895)2.04129166
123Abnormality of serine family amino acid metabolism (HP:0010894)2.04129166
124Abnormality of vitamin metabolism (HP:0100508)2.02987285
125Decreased central vision (HP:0007663)2.02955247
126Abnormality of the renal medulla (HP:0100957)2.02216542
127Tubulointerstitial nephritis (HP:0001970)2.01966753
128Recurrent abscess formation (HP:0002722)2.01534382
129Spontaneous hematomas (HP:0007420)2.00924849
130Hypochromic microcytic anemia (HP:0004840)2.00665506
131Hypoplasia of dental enamel (HP:0006297)1.99078837
132Breast carcinoma (HP:0003002)1.99063264
133Hemoptysis (HP:0002105)1.98139757
134Type II lissencephaly (HP:0007260)1.96370662
135Increased circulating renin level (HP:0000848)1.96196558
136Biliary tract neoplasm (HP:0100574)1.94709060
137Hypokalemia (HP:0002900)1.93700945
138Large for gestational age (HP:0001520)1.90036782
139Alopecia of scalp (HP:0002293)1.89385798
140Dehydration (HP:0001944)1.89290513
141T lymphocytopenia (HP:0005403)1.89110669
142Gaze-evoked nystagmus (HP:0000640)1.89035014
143Hypochromic anemia (HP:0001931)1.88574243
144Recurrent skin infections (HP:0001581)1.87286030
145Pendular nystagmus (HP:0012043)1.86922890
146Male infertility (HP:0003251)1.86337995
147Ketoacidosis (HP:0001993)1.85475763
148Proximal tubulopathy (HP:0000114)1.84960592
149Methylmalonic aciduria (HP:0012120)1.83608303
150Abnormality of T cells (HP:0002843)1.82307497
151Abnormal biliary tract morphology (HP:0012440)1.82253088
152Polyuria (HP:0000103)1.81807983
153Mildly elevated creatine phosphokinase (HP:0008180)1.81360838
154Conjunctival telangiectasia (HP:0000524)1.80411905
155Abnormal urine output (HP:0012590)1.80377349
156Abnormality of the middle phalanges of the toes (HP:0010183)1.79275584
157Short hallux (HP:0010109)1.78552133
158Ketosis (HP:0001946)1.77981887
159Abnormality of purine metabolism (HP:0004352)1.76158310
160Abnormal albumin level (HP:0012116)1.74426920
161Hypoalbuminemia (HP:0003073)1.74426920
162Hemorrhage of the eye (HP:0011885)1.74263582
163Enlarged epiphyses (HP:0010580)1.74136588
164Medial flaring of the eyebrow (HP:0010747)1.73983296
165Abnormality of the 1st metacarpal (HP:0010009)1.73933165
166Progressive inability to walk (HP:0002505)1.73660845
167Leukocytosis (HP:0001974)1.72883326
168Alveolar cell carcinoma (HP:0006519)1.72879030
169Abnormality of eosinophils (HP:0001879)1.72850651
170Neoplasm of the tracheobronchial system (HP:0100552)1.72611309
171IgG deficiency (HP:0004315)1.72399204
172Aplasia involving bones of the upper limbs (HP:0009823)1.72339996
173Aplasia of the phalanges of the hand (HP:0009802)1.72339996
174Aplasia involving bones of the extremities (HP:0009825)1.72339996
175Stage 5 chronic kidney disease (HP:0003774)1.71661539
176Cheilitis (HP:0100825)1.70882402
177Aneurysm (HP:0002617)1.70360037
178Abnormality of macular pigmentation (HP:0008002)1.69737520
179Abnormality of B cell number (HP:0010975)1.69428819
180Pustule (HP:0200039)1.69273111
181Vasculitis (HP:0002633)1.69261165
182Chronic diarrhea (HP:0002028)1.69131048
183Plantar hyperkeratosis (HP:0007556)1.67221186
184Vascular tortuosity (HP:0004948)1.66532268
185Tracheal stenosis (HP:0002777)1.65645257
186Thin bony cortex (HP:0002753)1.65515288
187Abnormality of the gastric mucosa (HP:0004295)1.64562287
188Bowed forearm bones (HP:0003956)1.62994424

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ACVR1B4.77543697
2WNK43.53938158
3STK243.46918814
4MST1R3.25796413
5EPHA23.15156604
6TGFBR23.03358239
7TESK13.00754112
8PDK32.95431761
9PDK42.95431761
10MST42.80704383
11STK38L2.74995030
12STK392.74911330
13TIE12.66113175
14EPHB12.49539968
15ADRBK22.42939467
16LMTK22.22403861
17MAP4K22.21742009
18TXK2.20042991
19NUAK12.09568955
20FER2.09077708
21PDK22.08510685
22FGFR41.92706294
23EPHA31.83067253
24PRKG21.82894895
25MET1.82625257
26PINK11.80219540
27PAK41.74378713
28PIK3CG1.72729832
29BMPR1B1.70962911
30RIPK11.70382597
31PTK2B1.69690736
32TNIK1.69463318
33RIPK41.68597757
34FGFR21.64313675
35LRRK21.57641784
36STK101.55879811
37FRK1.55447356
38INSRR1.51265795
39ZAP701.51145641
40STK31.49351405
41MAP2K21.46573816
42MYLK1.44364862
43IRAK41.43769455
44OXSR11.42639152
45DAPK21.38615049
46PTK61.35813096
47GRK61.35149080
48MAP3K21.33433222
49EPHB21.29677052
50PTK21.29229910
51MUSK1.27680493
52GRK11.27366076
53ZAK1.21895904
54LATS11.18277141
55CASK1.17052413
56TRIB31.12568960
57NLK1.11229817
58MAPK131.08898070
59ERN11.04539903
60PDGFRB1.01776298
61SYK1.01480113
62TNK21.00376910
63TTN0.96908373
64ADRBK10.96503631
65IKBKB0.95235948
66KDR0.91849299
67FES0.88745510
68BMPR20.87350133
69MAP3K140.87070120
70MAP3K120.86026261
71TGFBR10.85424075
72LIMK10.84703503
73TYK20.84679441
74NEK90.83958794
75LYN0.82552363
76ITK0.80551100
77MAP2K60.79688546
78PRKAA20.78518003
79BLK0.78137715
80PIK3CA0.75725328
81PRKCE0.75068840
82KIT0.72422440
83ICK0.72102099
84JAK20.70845055
85TLK10.70436462
86MAPK150.70196522
87FGR0.70181022
88BTK0.69766408
89PRKCZ0.69753455
90MAP2K10.69394659
91CAMKK20.68990592
92CDK60.68983151
93CDK190.67580594
94FGFR30.67270029
95MAP3K10.64391730
96HCK0.63597503
97GSK3A0.60329780
98STK110.59045936
99YES10.58796775
100LCK0.58218953
101DDR20.57694374
102PDGFRA0.57580177
103JAK10.56775746
104PRKD30.56264911
105SGK20.56117916
106NTRK30.54357522
107MAP3K70.54322564
108MATK0.54266999
109WNK30.53134076
110MAP3K30.52506935
111PDPK10.52448503
112MAP3K40.51302485
113STK380.51206911
114FGFR10.48698315
115KSR20.48233184
116PRKCI0.47741901
117MAP3K90.44292506
118PDK10.43584249
119ILK0.43542988
120IRAK10.43494438
121PIM10.43427742
122CSK0.43236639
123MELK0.42811019
124MAP3K130.42521320
125BCR0.42004266
126TRIM280.41969192
127CSF1R0.40532029
128MAP2K40.40342591
129MAP4K10.40294394
130PLK20.40261097
131BMX0.40135431
132BCKDK0.39668601
133PAK20.39491811
134PRKCA0.39216064
135ERBB20.38787091
136DYRK1B0.38187940
137NME10.38027991
138AKT30.36291656
139PRKD10.36103951
140DYRK20.34883714
141DYRK1A0.34290884
142TAOK30.34284508
143RET0.33862058
144TYRO30.33849421
145EIF2AK30.33629721
146PRKG10.33557449
147GRK50.33413986
148PRKCG0.32960923
149PAK30.32147685
150MAP3K80.32010765
151EGFR0.31728407
152SRC0.31651109
153IGF1R0.31116783
154JAK30.29073196
155DMPK0.28035173
156TRPM70.27975918
157RPS6KB20.27030225
158IKBKE0.26047802
159INSR0.24437662
160PRKCQ0.24393429
161TEC0.23869962
162WNK10.23291838

Predicted pathways (KEGG)

RankGene SetZ-score
1Sulfur metabolism_Homo sapiens_hsa009204.13306559
2Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005123.51860296
3* Mineral absorption_Homo sapiens_hsa049783.40925815
4Nitrogen metabolism_Homo sapiens_hsa009102.78830532
5Cyanoamino acid metabolism_Homo sapiens_hsa004602.70642231
6Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049602.51399701
7ECM-receptor interaction_Homo sapiens_hsa045122.34502376
8Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.21747995
9Adherens junction_Homo sapiens_hsa045202.20059861
10Maturity onset diabetes of the young_Homo sapiens_hsa049502.07296393
11Tight junction_Homo sapiens_hsa045302.03623502
12Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.01749417
13Bile secretion_Homo sapiens_hsa049761.95639666
14Pentose and glucuronate interconversions_Homo sapiens_hsa000401.88255659
15Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.82610519
16Renin-angiotensin system_Homo sapiens_hsa046141.79449735
17Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.71189865
18Intestinal immune network for IgA production_Homo sapiens_hsa046721.59466987
19Leukocyte transendothelial migration_Homo sapiens_hsa046701.56698039
20Focal adhesion_Homo sapiens_hsa045101.48520674
21Phototransduction_Homo sapiens_hsa047441.45713072
22Small cell lung cancer_Homo sapiens_hsa052221.40088293
23Graft-versus-host disease_Homo sapiens_hsa053321.39780953
24Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.37103747
25Allograft rejection_Homo sapiens_hsa053301.34982816
26Histidine metabolism_Homo sapiens_hsa003401.31256634
27Type I diabetes mellitus_Homo sapiens_hsa049401.29234194
28Protein digestion and absorption_Homo sapiens_hsa049741.28222024
29Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.27686783
30Thyroid cancer_Homo sapiens_hsa052161.26907860
31Autoimmune thyroid disease_Homo sapiens_hsa053201.26760207
32Toxoplasmosis_Homo sapiens_hsa051451.24554502
33Fatty acid degradation_Homo sapiens_hsa000711.22585739
34Drug metabolism - other enzymes_Homo sapiens_hsa009831.19790115
35Glutathione metabolism_Homo sapiens_hsa004801.18616169
36Caffeine metabolism_Homo sapiens_hsa002321.17027084
37PPAR signaling pathway_Homo sapiens_hsa033201.14441355
38Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.14130326
39Bladder cancer_Homo sapiens_hsa052191.13547919
40Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.13414103
41AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.12546452
42Peroxisome_Homo sapiens_hsa041461.12128337
43Amoebiasis_Homo sapiens_hsa051461.11076512
44Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.09972830
45Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.07796195
46Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.06305199
47Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.03901828
48Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.02887171
49Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.01934575
50Asthma_Homo sapiens_hsa053101.01616027
51Pentose phosphate pathway_Homo sapiens_hsa000301.00629943
52Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.00477508
53Regulation of autophagy_Homo sapiens_hsa041401.00454496
54Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.99990930
55Primary immunodeficiency_Homo sapiens_hsa053400.99405740
56Chemical carcinogenesis_Homo sapiens_hsa052040.99095675
57Staphylococcus aureus infection_Homo sapiens_hsa051500.99024028
58Proteoglycans in cancer_Homo sapiens_hsa052050.96584098
59Thyroid hormone synthesis_Homo sapiens_hsa049180.95858517
60Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.95218728
61Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.94743325
62Vitamin digestion and absorption_Homo sapiens_hsa049770.94690954
63NOD-like receptor signaling pathway_Homo sapiens_hsa046210.91363854
64Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.90175512
65Hippo signaling pathway_Homo sapiens_hsa043900.89977965
66Fatty acid biosynthesis_Homo sapiens_hsa000610.85808893
67ABC transporters_Homo sapiens_hsa020100.85560123
68Pyruvate metabolism_Homo sapiens_hsa006200.83305288
69Propanoate metabolism_Homo sapiens_hsa006400.83243197
70Leishmaniasis_Homo sapiens_hsa051400.81533945
71African trypanosomiasis_Homo sapiens_hsa051430.80984951
72Salmonella infection_Homo sapiens_hsa051320.79426585
73Glycerolipid metabolism_Homo sapiens_hsa005610.77760487
74Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.77310535
75Regulation of actin cytoskeleton_Homo sapiens_hsa048100.76987577
76Selenocompound metabolism_Homo sapiens_hsa004500.76165166
77Tryptophan metabolism_Homo sapiens_hsa003800.73643685
78alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.73479101
79VEGF signaling pathway_Homo sapiens_hsa043700.73363970
80Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.72900882
81Nicotine addiction_Homo sapiens_hsa050330.72487279
82Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.71739395
83Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.71724208
84Endocytosis_Homo sapiens_hsa041440.71385334
85Malaria_Homo sapiens_hsa051440.71202725
86Gastric acid secretion_Homo sapiens_hsa049710.70574706
87Pancreatic cancer_Homo sapiens_hsa052120.70517053
88Sphingolipid metabolism_Homo sapiens_hsa006000.69202913
89Serotonergic synapse_Homo sapiens_hsa047260.69125649
90Adipocytokine signaling pathway_Homo sapiens_hsa049200.68795978
91Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.67520256
92Fructose and mannose metabolism_Homo sapiens_hsa000510.67281901
93Fat digestion and absorption_Homo sapiens_hsa049750.66043774
94Rap1 signaling pathway_Homo sapiens_hsa040150.63054080
95Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.61813827
96Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.61027495
97Starch and sucrose metabolism_Homo sapiens_hsa005000.60363327
98Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.60347607
99Pancreatic secretion_Homo sapiens_hsa049720.60065047
100Tuberculosis_Homo sapiens_hsa051520.59574268
101Morphine addiction_Homo sapiens_hsa050320.59126818
102Viral myocarditis_Homo sapiens_hsa054160.58936592
103Dorso-ventral axis formation_Homo sapiens_hsa043200.58588857
104Primary bile acid biosynthesis_Homo sapiens_hsa001200.57927179
105Taste transduction_Homo sapiens_hsa047420.57290474
106Insulin secretion_Homo sapiens_hsa049110.57260754
107Chronic myeloid leukemia_Homo sapiens_hsa052200.57150997
108Carbohydrate digestion and absorption_Homo sapiens_hsa049730.56981411
109Collecting duct acid secretion_Homo sapiens_hsa049660.55324410
110Fatty acid metabolism_Homo sapiens_hsa012120.54617246
111Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.54191037
112TGF-beta signaling pathway_Homo sapiens_hsa043500.54147662
113Hepatitis C_Homo sapiens_hsa051600.53329727
114Glycosaminoglycan degradation_Homo sapiens_hsa005310.51269865
115Ovarian steroidogenesis_Homo sapiens_hsa049130.51156004
116Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.50548393
117Platelet activation_Homo sapiens_hsa046110.50095699
118Jak-STAT signaling pathway_Homo sapiens_hsa046300.49850066
119Oxidative phosphorylation_Homo sapiens_hsa001900.49129992
120Olfactory transduction_Homo sapiens_hsa047400.49037215
121Glycerophospholipid metabolism_Homo sapiens_hsa005640.48278638
122Pathways in cancer_Homo sapiens_hsa052000.48138039
123PI3K-Akt signaling pathway_Homo sapiens_hsa041510.47700297
124Vibrio cholerae infection_Homo sapiens_hsa051100.47392061
125Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.46461423
126Ether lipid metabolism_Homo sapiens_hsa005650.45943101
127Osteoclast differentiation_Homo sapiens_hsa043800.45735298
128Shigellosis_Homo sapiens_hsa051310.45597175
129Linoleic acid metabolism_Homo sapiens_hsa005910.45226035
130Retinol metabolism_Homo sapiens_hsa008300.44811236
131Insulin resistance_Homo sapiens_hsa049310.44446090
132Antigen processing and presentation_Homo sapiens_hsa046120.43951742
133Chemokine signaling pathway_Homo sapiens_hsa040620.43252010
134Hematopoietic cell lineage_Homo sapiens_hsa046400.41703738
135Lysosome_Homo sapiens_hsa041420.39919062
136Inositol phosphate metabolism_Homo sapiens_hsa005620.39642172
137Butanoate metabolism_Homo sapiens_hsa006500.39528208
138Salivary secretion_Homo sapiens_hsa049700.38337646
139Legionellosis_Homo sapiens_hsa051340.38115042
140Renal cell carcinoma_Homo sapiens_hsa052110.37617901
141SNARE interactions in vesicular transport_Homo sapiens_hsa041300.37493209
142Arginine and proline metabolism_Homo sapiens_hsa003300.37145927
143Steroid hormone biosynthesis_Homo sapiens_hsa001400.37005119
144Galactose metabolism_Homo sapiens_hsa000520.36493588
145Arachidonic acid metabolism_Homo sapiens_hsa005900.36027513
146Dilated cardiomyopathy_Homo sapiens_hsa054140.35393689
147Vascular smooth muscle contraction_Homo sapiens_hsa042700.34769913
148Renin secretion_Homo sapiens_hsa049240.34632186
149Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.33521167
150Metabolic pathways_Homo sapiens_hsa011000.32382837
151Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.31682615
152RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.31359832
153Arginine biosynthesis_Homo sapiens_hsa002200.30680080

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