SLC18A1

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





Description: The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* drug transmembrane transport (GO:0006855)8.75681562
2urate metabolic process (GO:0046415)8.46874619
3aminoglycoside antibiotic metabolic process (GO:0030647)8.31615820
4* drug transport (GO:0015893)7.18624334
5organic cation transport (GO:0015695)6.47945026
6detection of chemical stimulus involved in sensory perception of smell (GO:0050911)6.09617004
7lysine metabolic process (GO:0006553)5.81476908
8lysine catabolic process (GO:0006554)5.81476908
9protein K11-linked deubiquitination (GO:0035871)5.67072048
10phosphate ion transport (GO:0006817)5.56643569
11fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)5.40858801
12seminiferous tubule development (GO:0072520)5.39710571
13toxin transport (GO:1901998)5.26062524
14renal absorption (GO:0070293)5.20425406
15glycoside metabolic process (GO:0016137)5.13825161
16valine metabolic process (GO:0006573)5.06536161
17drug catabolic process (GO:0042737)5.04087614
18tricarboxylic acid metabolic process (GO:0072350)4.98963688
19glyoxylate metabolic process (GO:0046487)4.91241907
20branched-chain amino acid metabolic process (GO:0009081)4.88820881
21exogenous drug catabolic process (GO:0042738)4.86114465
22nonribosomal peptide biosynthetic process (GO:0019184)4.77245940
23negative regulation of T-helper cell differentiation (GO:0045623)4.68315454
24negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)4.68315454
25indolalkylamine catabolic process (GO:0046218)4.57481455
26tryptophan catabolic process (GO:0006569)4.57481455
27indole-containing compound catabolic process (GO:0042436)4.57481455
28quaternary ammonium group transport (GO:0015697)4.55536039
29behavioral response to nicotine (GO:0035095)4.54912264
30synaptic transmission, dopaminergic (GO:0001963)4.54724171
31short-chain fatty acid metabolic process (GO:0046459)4.50534411
32aromatic amino acid family catabolic process (GO:0009074)4.48494162
33homocysteine metabolic process (GO:0050667)4.46047018
34tryptophan metabolic process (GO:0006568)4.43567645
35cysteine metabolic process (GO:0006534)4.39880829
36cilium or flagellum-dependent cell motility (GO:0001539)4.35807750
37dendritic spine morphogenesis (GO:0060997)4.34485413
38phosphate ion transmembrane transport (GO:0035435)4.32870229
39proline metabolic process (GO:0006560)4.30977671
40branched-chain amino acid catabolic process (GO:0009083)4.29197431
41L-phenylalanine metabolic process (GO:0006558)4.27919343
42erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.27919343
43neural tube formation (GO:0001841)4.26749668
44detection of chemical stimulus involved in sensory perception (GO:0050907)4.23847306
45vitamin D metabolic process (GO:0042359)4.23520391
46glutathione biosynthetic process (GO:0006750)4.22862564
47erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.19325991
48L-phenylalanine catabolic process (GO:0006559)4.19325991
49peptide catabolic process (GO:0043171)4.18854775
50enteric nervous system development (GO:0048484)4.15350122
51positive regulation of mitochondrial fission (GO:0090141)4.13995241
52excretion (GO:0007588)4.08385828
53trivalent inorganic anion homeostasis (GO:0072506)4.02478706
54phosphate ion homeostasis (GO:0055062)4.02478706
55negative regulation of cytosolic calcium ion concentration (GO:0051481)4.02059907
56nucleoside diphosphate catabolic process (GO:0009134)4.01095744
57righting reflex (GO:0060013)3.98975312
58cell differentiation involved in metanephros development (GO:0072202)3.96935663
59response to mercury ion (GO:0046689)3.95944824
60tooth mineralization (GO:0034505)3.93532985
61positive regulation of RNA splicing (GO:0033120)3.87195604
62cellular modified amino acid catabolic process (GO:0042219)3.84718890
63metanephric nephron tubule development (GO:0072234)3.82274304
64metanephric tubule development (GO:0072170)3.82274304
65amino-acid betaine metabolic process (GO:0006577)3.81868654
66fatty acid beta-oxidation (GO:0006635)3.78210608
67carnitine metabolic process (GO:0009437)3.76018221
68negative regulation of alpha-beta T cell differentiation (GO:0046639)3.73116788
69regulation of pigment cell differentiation (GO:0050932)3.71618820
70indolalkylamine metabolic process (GO:0006586)3.66728793
71reflex (GO:0060004)3.58800739
72aspartate family amino acid catabolic process (GO:0009068)3.58501157
73oligosaccharide catabolic process (GO:0009313)3.57033751
74detection of light stimulus involved in visual perception (GO:0050908)3.56400115
75detection of light stimulus involved in sensory perception (GO:0050962)3.56400115
76peptide biosynthetic process (GO:0043043)3.56389783
77primary amino compound metabolic process (GO:1901160)3.54701553
782-oxoglutarate metabolic process (GO:0006103)3.54387587
79fatty acid oxidation (GO:0019395)3.53227605
80fucose metabolic process (GO:0006004)3.48428051
81lipid oxidation (GO:0034440)3.48246749
82negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.47812054
83metanephric nephron epithelium development (GO:0072243)3.43153202
84positive regulation of protein sumoylation (GO:0033235)3.43078802
85pyrimidine nucleobase catabolic process (GO:0006208)3.42565675
86indole-containing compound metabolic process (GO:0042430)3.42119328
87aromatic amino acid family metabolic process (GO:0009072)3.40373507
88regulation of T-helper 1 cell differentiation (GO:0045625)3.39339822
89activation of protein kinase A activity (GO:0034199)3.39023124
90behavioral response to ethanol (GO:0048149)3.38182401
91phosphatidylinositol acyl-chain remodeling (GO:0036149)3.38180699
92pyrimidine ribonucleoside catabolic process (GO:0046133)3.30812447
93kynurenine metabolic process (GO:0070189)3.28812193
94fatty acid catabolic process (GO:0009062)3.27728950
95protein localization to synapse (GO:0035418)3.24982120
96fructose metabolic process (GO:0006000)3.24976753
97response to pheromone (GO:0019236)3.22730983
98metanephric epithelium development (GO:0072207)3.17585778
99icosanoid secretion (GO:0032309)3.16765762
100arachidonic acid secretion (GO:0050482)3.16765762
101peristalsis (GO:0030432)3.16392384
102serotonin metabolic process (GO:0042428)3.15412038
103alkaloid metabolic process (GO:0009820)3.14317344
104detection of chemical stimulus (GO:0009593)3.13342075
105amine catabolic process (GO:0009310)3.10842174
106cellular biogenic amine catabolic process (GO:0042402)3.10842174
107platelet dense granule organization (GO:0060155)3.10521672
108cellular amino acid catabolic process (GO:0009063)3.08661352
109hindbrain development (GO:0030902)3.08159789
110aldehyde catabolic process (GO:0046185)3.07216666
111monocarboxylic acid catabolic process (GO:0072329)3.06906944
112vocalization behavior (GO:0071625)3.04246030
113mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)3.02792589
114positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021103.02792589
115epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.02137363
116negative regulation of astrocyte differentiation (GO:0048712)2.97441629
117chemosensory behavior (GO:0007635)2.97212380
118beta-amyloid metabolic process (GO:0050435)2.96983255
119glutathione metabolic process (GO:0006749)2.96778319
120response to phenylpropanoid (GO:0080184)2.96661134
121serine family amino acid catabolic process (GO:0009071)2.95966977
122phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)2.95700771
123alpha-amino acid catabolic process (GO:1901606)2.95024102
124carnitine transport (GO:0015879)2.94616560
125amino-acid betaine transport (GO:0015838)2.94616560
126carboxylic acid catabolic process (GO:0046395)2.93853972
127organic acid catabolic process (GO:0016054)2.93853972
128nephron tubule development (GO:0072080)2.93303598
129cilium movement (GO:0003341)2.91847082
130polyol catabolic process (GO:0046174)2.91376944
131renal tubule development (GO:0061326)2.91141211
132glucocorticoid biosynthetic process (GO:0006704)2.86621210
133nucleobase catabolic process (GO:0046113)2.85537592
134regulation of neurotransmitter uptake (GO:0051580)2.85519416
135dopamine biosynthetic process (GO:0042416)2.84930575
136bile acid biosynthetic process (GO:0006699)2.84623385
137succinate metabolic process (GO:0006105)2.84329454
138sympathetic nervous system development (GO:0048485)2.84103505
139benzene-containing compound metabolic process (GO:0042537)2.83693710
140DNA double-strand break processing (GO:0000729)2.82900404
141epithelial cilium movement (GO:0003351)2.82793012
142proline transport (GO:0015824)2.81366731
143modified amino acid transport (GO:0072337)2.80938220
144retina layer formation (GO:0010842)2.80062915
145cellular ketone body metabolic process (GO:0046950)2.79848190
146regulation of dopamine uptake involved in synaptic transmission (GO:0051584)2.77992792
147regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)2.77992792
148nephron tubule morphogenesis (GO:0072078)2.77787388
149nephron epithelium morphogenesis (GO:0072088)2.77787388
150drug metabolic process (GO:0017144)2.76175614
151phasic smooth muscle contraction (GO:0014821)2.75723843
152cAMP biosynthetic process (GO:0006171)2.75208634
153polyol transport (GO:0015791)2.73331752
154NADH metabolic process (GO:0006734)2.72384761
155negative regulation of axon guidance (GO:1902668)2.72227721
156nephron epithelium development (GO:0072009)2.71359084
157regulation of mitochondrial fission (GO:0090140)2.70592244
158glutamate metabolic process (GO:0006536)2.70230279
159mesenchymal cell differentiation involved in kidney development (GO:0072161)2.69977035
160mesenchymal cell differentiation involved in renal system development (GO:2001012)2.69977035
161detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.68998318
162ATP hydrolysis coupled proton transport (GO:0015991)2.68876341
163energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.68876341
164response to growth hormone (GO:0060416)2.68641893
165sulfur amino acid catabolic process (GO:0000098)2.68246794
166prenylation (GO:0097354)2.68232248
167protein prenylation (GO:0018342)2.68232248
168positive regulation of membrane potential (GO:0045838)2.67586644
169neuronal action potential (GO:0019228)2.67361445
170left/right axis specification (GO:0070986)2.66611088
171phosphatidylserine acyl-chain remodeling (GO:0036150)2.63889646
172transmission of nerve impulse (GO:0019226)2.63267681
173olfactory bulb development (GO:0021772)2.61228147
174attachment of spindle microtubules to kinetochore (GO:0008608)2.61140363
175presynaptic membrane assembly (GO:0097105)2.58754743
176ketone body metabolic process (GO:1902224)2.56443253
177cilium organization (GO:0044782)2.55805738
178positive regulation of T-helper 1 type immune response (GO:0002827)2.54968547
179cilium assembly (GO:0042384)2.53989675
180adaptation of signaling pathway (GO:0023058)2.53433838
181embryonic epithelial tube formation (GO:0001838)2.52410156
182hepatocyte apoptotic process (GO:0097284)2.51312732
183exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.51199851
184cilium morphogenesis (GO:0060271)2.50334366
185protein polyglutamylation (GO:0018095)2.49806797
186protein-cofactor linkage (GO:0018065)2.49692916
187neuronal ion channel clustering (GO:0045161)2.49448515
188DNA integration (GO:0015074)2.49422784
189regulation of T-helper 2 cell differentiation (GO:0045628)2.48507385
190response to auditory stimulus (GO:0010996)2.47668889
191gamma-aminobutyric acid transport (GO:0015812)2.47179749
192adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)2.44972059

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse4.76800556
2RXR_22158963_ChIP-Seq_LIVER_Mouse3.93617715
3HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.65173552
4VDR_22108803_ChIP-Seq_LS180_Human3.44218616
5IRF8_22096565_ChIP-ChIP_GC-B_Human3.39753005
6PPARA_22158963_ChIP-Seq_LIVER_Mouse3.20960787
7ZNF274_21170338_ChIP-Seq_K562_Hela3.10778205
8ESR1_21235772_ChIP-Seq_MCF-7_Human3.10556852
9EZH2_22144423_ChIP-Seq_EOC_Human3.08140558
10LXR_22158963_ChIP-Seq_LIVER_Mouse3.07462859
11ZFP57_27257070_Chip-Seq_ESCs_Mouse3.06471004
12* EGR1_23403033_ChIP-Seq_LIVER_Mouse2.86317572
13POU3F2_20337985_ChIP-ChIP_501MEL_Human2.55678805
14IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.55534225
15TAF15_26573619_Chip-Seq_HEK293_Human2.52545067
16CTBP1_25329375_ChIP-Seq_LNCAP_Human2.34219138
17CTBP2_25329375_ChIP-Seq_LNCAP_Human2.29268619
18CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.26069008
19PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human2.06353519
20AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.06033142
21GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.05928128
22CDX2_20551321_ChIP-Seq_CACO-2_Human2.02917627
23STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse2.01983954
24P300_19829295_ChIP-Seq_ESCs_Human2.00867899
25AR_21572438_ChIP-Seq_LNCaP_Human1.99104110
26EWS_26573619_Chip-Seq_HEK293_Human1.98484606
27FUS_26573619_Chip-Seq_HEK293_Human1.96973399
28LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.93800035
29CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.93252909
30CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.87911334
31TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.83495353
32POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.83495353
33UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.82628167
34ER_23166858_ChIP-Seq_MCF-7_Human1.80882536
35CBX2_27304074_Chip-Seq_ESCs_Mouse1.77896111
36FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.76697755
37TRIM28_21343339_ChIP-Seq_HEK293_Human1.75512668
38* NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.73942068
39SMAD3_21741376_ChIP-Seq_EPCs_Human1.73749970
40SMAD4_21799915_ChIP-Seq_A2780_Human1.73277255
41SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.72506780
42HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.66510186
43FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.64870102
44* STAT3_23295773_ChIP-Seq_U87_Human1.63312736
45CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.62126526
46RNF2_27304074_Chip-Seq_NSC_Mouse1.60897666
47MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.59234983
48E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.58333868
49PIAS1_25552417_ChIP-Seq_VCAP_Human1.58282013
50IGF1R_20145208_ChIP-Seq_DFB_Human1.57245797
51CDX2_19796622_ChIP-Seq_MESCs_Mouse1.56371978
52GATA4_25053715_ChIP-Seq_YYC3_Human1.56332833
53SALL1_21062744_ChIP-ChIP_HESCs_Human1.56091370
54TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.55512783
55EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.52798085
56GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.52521893
57LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.51469817
58SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.49582623
59SOX2_27498859_Chip-Seq_STOMACH_Mouse1.47304465
60PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.46886971
61RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.46717286
62IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.46293437
63* CBP_20019798_ChIP-Seq_JUKART_Human1.46137186
64* IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.46137186
65FLI1_27457419_Chip-Seq_LIVER_Mouse1.45925335
66GATA1_22025678_ChIP-Seq_K562_Human1.45378850
67AR_25329375_ChIP-Seq_VCAP_Human1.44963100
68FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.44443874
69* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.44057451
70TOP2B_26459242_ChIP-Seq_MCF-7_Human1.43957251
71IRF8_21731497_ChIP-ChIP_J774_Mouse1.43814548
72EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.43633361
73TCF4_22108803_ChIP-Seq_LS180_Human1.42932710
74ELF1_17652178_ChIP-ChIP_JURKAT_Human1.42683057
75REST_21632747_ChIP-Seq_MESCs_Mouse1.41991012
76EZH2_27294783_Chip-Seq_NPCs_Mouse1.40150994
77SOX2_20726797_ChIP-Seq_SW620_Human1.39604994
78* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.38796394
79PRDM14_20953172_ChIP-Seq_ESCs_Human1.36517856
80MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.36143283
81TCF4_23295773_ChIP-Seq_U87_Human1.32147241
82GBX2_23144817_ChIP-Seq_PC3_Human1.29860204
83NR3C1_21868756_ChIP-Seq_MCF10A_Human1.27169899
84IRF8_27001747_Chip-Seq_BMDM_Mouse1.26896633
85EZH2_27304074_Chip-Seq_ESCs_Mouse1.25979400
86ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.25649289
87SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.24869802
88TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.23953799
89E2F1_18555785_Chip-Seq_ESCs_Mouse1.23411486
90EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.22902501
91TP53_16413492_ChIP-PET_HCT116_Human1.22792413
92SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.22697193
93* KLF5_20875108_ChIP-Seq_MESCs_Mouse1.22301432
94PCGF2_27294783_Chip-Seq_ESCs_Mouse1.21881619
95CMYC_18555785_Chip-Seq_ESCs_Mouse1.21371902
96SOX2_19829295_ChIP-Seq_ESCs_Human1.21362113
97NANOG_19829295_ChIP-Seq_ESCs_Human1.21362113
98CRX_20693478_ChIP-Seq_RETINA_Mouse1.21261959
99TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.20408202
100RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.20212298
101RUNX2_22187159_ChIP-Seq_PCA_Human1.20059316
102TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.19567009
103SMAD4_21741376_ChIP-Seq_EPCs_Human1.19365687
104GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.19280733
105KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.19241651
106AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.18806302
107TP53_18474530_ChIP-ChIP_U2OS_Human1.16743444
108FLI1_21867929_ChIP-Seq_TH2_Mouse1.16308689
109PCGF2_27294783_Chip-Seq_NPCs_Mouse1.16243031
110SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.14547553
111Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.14158451
112CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.14144881
113TP53_22573176_ChIP-Seq_HFKS_Human1.13881525
114SUZ12_27294783_Chip-Seq_NPCs_Mouse1.13709541
115HNF4A_19822575_ChIP-Seq_HepG2_Human1.13242097
116ESR2_21235772_ChIP-Seq_MCF-7_Human1.12878655
117OCT4_21477851_ChIP-Seq_ESCs_Mouse1.12706106
118JARID2_20064375_ChIP-Seq_MESCs_Mouse1.12549038
119NFE2_27457419_Chip-Seq_LIVER_Mouse1.12242462
120* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.11716424
121HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.10751346
122* EGR1_19032775_ChIP-ChIP_M12_Human1.10214968
123* AR_20517297_ChIP-Seq_VCAP_Human1.10203201
124NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.10126422
125STAT3_18555785_Chip-Seq_ESCs_Mouse1.09579501
126BCAT_22108803_ChIP-Seq_LS180_Human1.08630810
127ETV2_25802403_ChIP-Seq_MESCs_Mouse1.07709121
128P53_22387025_ChIP-Seq_ESCs_Mouse1.07594945
129TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.07443251
130EED_16625203_ChIP-ChIP_MESCs_Mouse1.07146962
131ESRRB_18555785_Chip-Seq_ESCs_Mouse1.06710101
132TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.06220310
133ZFX_18555785_Chip-Seq_ESCs_Mouse1.06147139
134OCT4_18555785_Chip-Seq_ESCs_Mouse1.06122790
135GATA2_21666600_ChIP-Seq_HMVEC_Human1.05418575
136BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.04509723
137TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03575100
138SMAD3_21741376_ChIP-Seq_HESCs_Human1.02187331
139SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.01685618
140EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.01442946
141SUZ12_18555785_Chip-Seq_ESCs_Mouse1.01328399
142GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.00482055
143TAL1_26923725_Chip-Seq_HPCs_Mouse0.99927451
144ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.99818874
145STAT1_17558387_ChIP-Seq_HELA_Human0.99235878
146FOXA1_25329375_ChIP-Seq_VCAP_Human0.99055472
147FOXA1_27270436_Chip-Seq_PROSTATE_Human0.99055472
148* REST_18959480_ChIP-ChIP_MESCs_Mouse0.98949171
149FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.96301886
150GATA3_26560356_Chip-Seq_TH2_Human0.95595847
151NANOG_18555785_Chip-Seq_ESCs_Mouse0.95432591
152KLF4_18555785_Chip-Seq_ESCs_Mouse0.94277319
153NRF2_20460467_ChIP-Seq_MEFs_Mouse0.93345885
154NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.93345885
155STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.92299969
156BMI1_23680149_ChIP-Seq_NPCS_Mouse0.91628576
157NMYC_18555785_Chip-Seq_ESCs_Mouse0.91553116
158TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.90800342
159RUNX1_27457419_Chip-Seq_LIVER_Mouse0.90302303
160SOX2_18555785_Chip-Seq_ESCs_Mouse0.90254287
161P300_18555785_Chip-Seq_ESCs_Mouse0.89559495
162CTCF_18555785_Chip-Seq_ESCs_Mouse0.88889754
163FOXA2_19822575_ChIP-Seq_HepG2_Human0.88517716
164SMAD1_18555785_Chip-Seq_ESCs_Mouse0.86746735
165ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.85971153
166BP1_19119308_ChIP-ChIP_Hs578T_Human0.85867714
167CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.84877640
168RAD21_21589869_ChIP-Seq_MESCs_Mouse0.84010050
169* PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.83505757
170GATA6_25053715_ChIP-Seq_YYC3_Human0.82707849
171EP300_21415370_ChIP-Seq_HL-1_Mouse0.82000694
172CDX2_22108803_ChIP-Seq_LS180_Human0.81859377
173* MYC_19915707_ChIP-ChIP_AK7_Human0.80875436
174ZNF217_24962896_ChIP-Seq_MCF-7_Human0.80445125
175KAP1_22055183_ChIP-Seq_ESCs_Mouse0.80151018

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis5.91905198
2MP0004043_abnormal_pH_regulation5.37492407
3MP0002139_abnormal_hepatobiliary_system4.84724891
4MP0003195_calcinosis4.70092166
5MP0002822_catalepsy4.65506518
6MP0004019_abnormal_vitamin_homeostasis3.96528929
7MP0002876_abnormal_thyroid_physiology3.65377167
8MP0005332_abnormal_amino_acid3.64527188
9MP0001765_abnormal_ion_homeostasis3.26143746
10MP0002138_abnormal_hepatobiliary_system3.20103864
11MP0009643_abnormal_urine_homeostasis3.19725806
12MP0002102_abnormal_ear_morphology3.11839963
13MP0009379_abnormal_foot_pigmentation3.10302050
14MP0003880_abnormal_central_pattern3.07756503
15MP0008875_abnormal_xenobiotic_pharmacok2.89277634
16MP0005636_abnormal_mineral_homeostasis2.75723497
17MP0003252_abnormal_bile_duct2.63301570
18MP0005085_abnormal_gallbladder_physiolo2.48700534
19MP0006072_abnormal_retinal_apoptosis2.47361888
20MP0004133_heterotaxia2.44326506
21MP0005365_abnormal_bile_salt2.37399731
22MP0001756_abnormal_urination2.36071631
23MP0001968_abnormal_touch/_nociception2.35687760
24MP0005646_abnormal_pituitary_gland2.35007505
25MP0006276_abnormal_autonomic_nervous2.31356445
26MP0001188_hyperpigmentation2.30061944
27MP0001529_abnormal_vocalization2.29830887
28MP0002736_abnormal_nociception_after2.29740655
29MP0002735_abnormal_chemical_nociception2.27025933
30MP0000678_abnormal_parathyroid_gland2.17608908
31MP0002136_abnormal_kidney_physiology2.17592304
32MP0002751_abnormal_autonomic_nervous2.17484364
33MP0005058_abnormal_lysosome_morphology2.07868511
34MP0005551_abnormal_eye_electrophysiolog2.05585633
35MP0005253_abnormal_eye_physiology1.95903241
36MP0010386_abnormal_urinary_bladder1.84135758
37MP0005409_darkened_coat_color1.74981318
38MP0008877_abnormal_DNA_methylation1.74874468
39MP0000569_abnormal_digit_pigmentation1.71528736
40MP0001905_abnormal_dopamine_level1.70621592
41MP0004147_increased_porphyrin_level1.69700403
42MP0000372_irregular_coat_pigmentation1.66806511
43MP0009745_abnormal_behavioral_response1.63560249
44MP0002572_abnormal_emotion/affect_behav1.61082194
45MP0000538_abnormal_urinary_bladder1.56087224
46MP0001486_abnormal_startle_reflex1.54852597
47MP0001764_abnormal_homeostasis1.53244349
48MP0005220_abnormal_exocrine_pancreas1.52876275
49MP0005174_abnormal_tail_pigmentation1.50413002
50MP0003300_gastrointestinal_ulcer1.48929143
51MP0000631_abnormal_neuroendocrine_gland1.48606443
52MP0005084_abnormal_gallbladder_morpholo1.48145677
53MP0003787_abnormal_imprinting1.47587375
54MP0005187_abnormal_penis_morphology1.46376691
55MP0005377_hearing/vestibular/ear_phenot1.42839408
56MP0003878_abnormal_ear_physiology1.42839408
57MP0003121_genomic_imprinting1.42739437
58MP0005386_behavior/neurological_phenoty1.40153813
59MP0004924_abnormal_behavior1.40153813
60MP0003567_abnormal_fetal_cardiomyocyte1.40127119
61MP0005645_abnormal_hypothalamus_physiol1.38286092
62MP0002272_abnormal_nervous_system1.37173824
63MP0008872_abnormal_physiological_respon1.34395828
64MP0002928_abnormal_bile_duct1.32881604
65MP0003191_abnormal_cellular_cholesterol1.32682567
66MP0002734_abnormal_mechanical_nocicepti1.29992189
67MP0000647_abnormal_sebaceous_gland1.27272585
68MP0002938_white_spotting1.27186724
69MP0000230_abnormal_systemic_arterial1.24033165
70MP0003635_abnormal_synaptic_transmissio1.23947049
71MP0003122_maternal_imprinting1.23352652
72MP0005584_abnormal_enzyme/coenzyme_acti1.23297471
73MP0001501_abnormal_sleep_pattern1.22737975
74MP0004130_abnormal_muscle_cell1.22600001
75MP0001970_abnormal_pain_threshold1.21537246
76MP0003186_abnormal_redox_activity1.21457356
77MP0001666_abnormal_nutrient_absorption1.21086724
78MP0000015_abnormal_ear_pigmentation1.20723391
79MP0002184_abnormal_innervation1.20590093
80MP0002009_preneoplasia1.20044844
81MP0002733_abnormal_thermal_nociception1.18205072
82MP0008995_early_reproductive_senescence1.17854334
83MP0005319_abnormal_enzyme/_coenzyme1.17847411
84MP0009764_decreased_sensitivity_to1.17273023
85MP0005451_abnormal_body_composition1.16795304
86MP0000778_abnormal_nervous_system1.16523445
87MP0005379_endocrine/exocrine_gland_phen1.14572235
88MP0000681_abnormal_thyroid_gland1.14433349
89MP0001944_abnormal_pancreas_morphology1.12971540
90MP0002557_abnormal_social/conspecific_i1.12696835
91MP0005535_abnormal_body_temperature1.11479731
92MP0009046_muscle_twitch1.11306665
93MP0003283_abnormal_digestive_organ1.09448204
94MP0000516_abnormal_urinary_system1.08902309
95MP0005367_renal/urinary_system_phenotyp1.08902309
96MP0004142_abnormal_muscle_tone1.07148093
97MP0006054_spinal_hemorrhage1.05619608
98MP0003806_abnormal_nucleotide_metabolis1.05451055
99MP0004742_abnormal_vestibular_system1.03621011
100MP0003172_abnormal_lysosome_physiology1.02997112
101MP0002063_abnormal_learning/memory/cond1.01977736
102MP0005171_absent_coat_pigmentation1.01575938
103MP0000427_abnormal_hair_cycle1.01231243
104MP0001958_emphysema1.00929539
105MP0003890_abnormal_embryonic-extraembry0.99942441
106MP0002909_abnormal_adrenal_gland0.99858656
107MP0003136_yellow_coat_color0.99503395
108MP0001873_stomach_inflammation0.99374538
109MP0003183_abnormal_peptide_metabolism0.97932363
110MP0002693_abnormal_pancreas_physiology0.97187621
111MP0003879_abnormal_hair_cell0.97099714
112MP0005670_abnormal_white_adipose0.96562443
113MP0005310_abnormal_salivary_gland0.96194464
114MP0003724_increased_susceptibility_to0.95636765
115MP0002837_dystrophic_cardiac_calcinosis0.95438894
116MP0003943_abnormal_hepatobiliary_system0.95190707
117MP0005423_abnormal_somatic_nervous0.95188567
118MP0001984_abnormal_olfaction0.94600863
119MP0008469_abnormal_protein_level0.94145408
120MP0002064_seizures0.93840026
121MP0002896_abnormal_bone_mineralization0.93275443
122MP0002067_abnormal_sensory_capabilities0.92896870
123MP0004270_analgesia0.92529373
124MP0001270_distended_abdomen0.91779133
125MP0005448_abnormal_energy_balance0.91716388
126MP0002118_abnormal_lipid_homeostasis0.90348462
127MP0002653_abnormal_ependyma_morphology0.90113348
128MP0002752_abnormal_somatic_nervous0.89300712
129MP0005195_abnormal_posterior_eye0.88532346
130MP0002882_abnormal_neuron_morphology0.87637406
131MP0006036_abnormal_mitochondrial_physio0.87030158
132MP0003959_abnormal_lean_body0.87017097
133MP0004264_abnormal_extraembryonic_tissu0.85792027
134MP0009642_abnormal_blood_homeostasis0.84808525
135MP0002078_abnormal_glucose_homeostasis0.83302505
136MP0002135_abnormal_kidney_morphology0.83292290
137MP0002168_other_aberrant_phenotype0.82459633
138MP0002638_abnormal_pupillary_reflex0.81716866
139MP0006292_abnormal_olfactory_placode0.79937499
140MP0002069_abnormal_eating/drinking_beha0.79806685
141MP0002234_abnormal_pharynx_morphology0.78937980
142MP0001986_abnormal_taste_sensitivity0.78894284
143MP0005408_hypopigmentation0.78644330
144MP0001324_abnormal_eye_pigmentation0.78112428
145MP0005391_vision/eye_phenotype0.75870122
146MP0005387_immune_system_phenotype0.75812646
147MP0001790_abnormal_immune_system0.75812646
148MP0000026_abnormal_inner_ear0.75431022
149MP0001440_abnormal_grooming_behavior0.75320977
150MP0002095_abnormal_skin_pigmentation0.75044692
151MP0002998_abnormal_bone_remodeling0.74656562
152MP0000609_abnormal_liver_physiology0.73939715
153MP0004145_abnormal_muscle_electrophysio0.73739190
154MP0001845_abnormal_inflammatory_respons0.72801218
155MP0010329_abnormal_lipoprotein_level0.72448504
156MP0005083_abnormal_biliary_tract0.71525199
157MP0003718_maternal_effect0.71067889
158MP0003953_abnormal_hormone_level0.70175476
159MP0008961_abnormal_basal_metabolism0.69088429
160MP0003868_abnormal_feces_composition0.67618762
161MP0003638_abnormal_response/metabolism_0.66409778
162MP0004885_abnormal_endolymph0.65787693
163MP0001835_abnormal_antigen_presentation0.64672042
164MP0001485_abnormal_pinna_reflex0.64315154
165MP0000685_abnormal_immune_system0.61656443
166MP0009785_altered_susceptibility_to0.59557606
167MP0002163_abnormal_gland_morphology0.58532986
168MP0000371_diluted_coat_color0.56911508
169MP0003795_abnormal_bone_structure0.55782847
170MP0004782_abnormal_surfactant_physiolog0.53826351
171MP0009765_abnormal_xenobiotic_induced0.51015471
172MP0003866_abnormal_defecation0.50246437
173MP0001664_abnormal_digestion0.49457447
174MP0000598_abnormal_liver_morphology0.48284808
175MP0002148_abnormal_hypersensitivity_rea0.47928610
176MP0006035_abnormal_mitochondrial_morpho0.46585895
177MP0006082_CNS_inflammation0.46203572
178MP0001663_abnormal_digestive_system0.45677864

Predicted human phenotypes

RankGene SetZ-score
1Increased circulating renin level (HP:0000848)6.30594530
2Hypokalemic alkalosis (HP:0001949)6.14932044
3Abnormality of magnesium homeostasis (HP:0004921)6.11482548
4Metabolic alkalosis (HP:0200114)6.10664564
5Hypomagnesemia (HP:0002917)5.99998087
6Hyperactive renin-angiotensin system (HP:0000841)5.98242339
7Abnormality of chloride homeostasis (HP:0011422)5.62843441
8Gout (HP:0001997)5.29633100
9Polyuria (HP:0000103)5.09888911
10Proximal tubulopathy (HP:0000114)4.87182109
11Abnormal urine output (HP:0012590)4.85426853
12Abnormality of renal excretion (HP:0011036)4.66469009
13Tetany (HP:0001281)4.58722330
14Abnormality of renin-angiotensin system (HP:0000847)4.43499325
15Generalized aminoaciduria (HP:0002909)4.38095014
16Alkalosis (HP:0001948)4.35312941
17Abnormality of glutamine family amino acid metabolism (HP:0010902)4.34580082
18Hyperglycinuria (HP:0003108)4.24644859
19Polydipsia (HP:0001959)4.23916288
20Abnormal drinking behavior (HP:0030082)4.23916288
21Hyperaldosteronism (HP:0000859)4.23907291
22Molar tooth sign on MRI (HP:0002419)4.19038936
23Abnormality of midbrain morphology (HP:0002418)4.19038936
24Renal salt wasting (HP:0000127)4.11702650
25Ketoacidosis (HP:0001993)3.95583532
26Intestinal atresia (HP:0011100)3.94085370
27Abnormality of purine metabolism (HP:0004352)3.87883195
28Pancreatic cysts (HP:0001737)3.85319748
29Increased purine levels (HP:0004368)3.85178038
30Hyperuricemia (HP:0002149)3.85178038
31Nephronophthisis (HP:0000090)3.80984234
32Hypercalciuria (HP:0002150)3.70098747
33Pancreatic fibrosis (HP:0100732)3.68610879
34True hermaphroditism (HP:0010459)3.63828986
35Hypothermia (HP:0002045)3.60460992
36Hypokalemia (HP:0002900)3.42005542
37Amelogenesis imperfecta (HP:0000705)3.33773626
38Glycosuria (HP:0003076)3.30262555
39Abnormality of urine glucose concentration (HP:0011016)3.30262555
40Abnormality of glycine metabolism (HP:0010895)3.30034864
41Abnormality of serine family amino acid metabolism (HP:0010894)3.30034864
42Unilateral renal agenesis (HP:0000122)3.23354831
43Ketosis (HP:0001946)3.19146159
44Abnormality of the renal medulla (HP:0100957)3.17464638
45Inability to walk (HP:0002540)3.08747084
46Hydroxyprolinuria (HP:0003080)3.07630364
47Abnormality of proline metabolism (HP:0010907)3.07630364
48Vacuolated lymphocytes (HP:0001922)3.06703123
49Abnormality of potassium homeostasis (HP:0011042)3.06078661
50Abnormality of aromatic amino acid family metabolism (HP:0004338)3.03979225
51Chronic hepatic failure (HP:0100626)3.01810597
52Attenuation of retinal blood vessels (HP:0007843)2.99330177
53Renal tubular acidosis (HP:0001947)2.97983770
54Limb dystonia (HP:0002451)2.96711402
55Abnormality of nucleobase metabolism (HP:0010932)2.94352681
56Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.88684258
57Medial flaring of the eyebrow (HP:0010747)2.87205350
58Hyperphosphatemia (HP:0002905)2.87049728
59Focal motor seizures (HP:0011153)2.84246705
60Congenital stationary night blindness (HP:0007642)2.81477923
61Hyperventilation (HP:0002883)2.80947963
62Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.78532534
63Abnormality of alanine metabolism (HP:0010916)2.78532534
64Hyperalaninemia (HP:0003348)2.78532534
65Metaphyseal cupping (HP:0003021)2.72860688
66Hyperphosphaturia (HP:0003109)2.72333270
67Intrahepatic cholestasis (HP:0001406)2.69232860
68Oligodactyly (hands) (HP:0001180)2.68073969
69Congenital sensorineural hearing impairment (HP:0008527)2.67662791
70Abolished electroretinogram (ERG) (HP:0000550)2.66779025
71Abnormality of dental color (HP:0011073)2.66175607
72Nephrolithiasis (HP:0000787)2.60016093
73Drooling (HP:0002307)2.58889478
74Abnormal urine phosphate concentration (HP:0012599)2.55107675
75Enlarged kidneys (HP:0000105)2.52819923
76Abnormality of aspartate family amino acid metabolism (HP:0010899)2.52478910
77Hypophosphatemia (HP:0002148)2.50427779
78Abnormal respiratory motile cilium physiology (HP:0012261)2.49437501
79Abnormality of fatty-acid metabolism (HP:0004359)2.48096418
80Hypoglycemic coma (HP:0001325)2.46265499
81Sensorimotor neuropathy (HP:0007141)2.45790807
82Abnormal respiratory motile cilium morphology (HP:0005938)2.43549522
83Abnormal respiratory epithelium morphology (HP:0012253)2.43549522
84Febrile seizures (HP:0002373)2.40004781
85Symptomatic seizures (HP:0011145)2.36797763
86Dynein arm defect of respiratory motile cilia (HP:0012255)2.36668377
87Absent/shortened dynein arms (HP:0200106)2.36668377
88Aplasia/hypoplasia of the uterus (HP:0008684)2.36626311
89Excessive salivation (HP:0003781)2.36203378
90Dicarboxylic aciduria (HP:0003215)2.34918743
91Abnormality of dicarboxylic acid metabolism (HP:0010995)2.34918743
92Renal cortical cysts (HP:0000803)2.32550690
93Progressive inability to walk (HP:0002505)2.31978211
94Decreased circulating renin level (HP:0003351)2.31645098
95Volvulus (HP:0002580)2.31069273
96Gait imbalance (HP:0002141)2.30836234
97Thyroiditis (HP:0100646)2.30299370
98Abnormal ciliary motility (HP:0012262)2.30263315
99Bony spicule pigmentary retinopathy (HP:0007737)2.29112915
100Nephrocalcinosis (HP:0000121)2.29077824
101Constricted visual fields (HP:0001133)2.27940656
102Vascular calcification (HP:0004934)2.27566339
103Delayed epiphyseal ossification (HP:0002663)2.25027659
104Abnormality of calcium-phosphate metabolism (HP:0100530)2.24434591
105Dysostosis multiplex (HP:0000943)2.24138901
106Gastrointestinal atresia (HP:0002589)2.21281886
107Metabolic acidosis (HP:0001942)2.20383190
108Anencephaly (HP:0002323)2.19933415
109Cystic liver disease (HP:0006706)2.19321674
110Congenital primary aphakia (HP:0007707)2.18938656
111Genital tract atresia (HP:0001827)2.18713814
112Nephrogenic diabetes insipidus (HP:0009806)2.17284076
113Supernumerary spleens (HP:0009799)2.17257285
114Methylmalonic acidemia (HP:0002912)2.17207264
115Delayed CNS myelination (HP:0002188)2.16919941
116Dehydration (HP:0001944)2.14441379
117Increased corneal curvature (HP:0100692)2.13972004
118Keratoconus (HP:0000563)2.13972004
119Abnormal tarsal ossification (HP:0008369)2.13955369
120Rhinitis (HP:0012384)2.12692130
121Aplasia/Hypoplasia of the tongue (HP:0010295)2.11836987
122Rickets (HP:0002748)2.11276260
123Hyperammonemia (HP:0001987)2.11167413
124Widely patent fontanelles and sutures (HP:0004492)2.10732052
125Hyperkalemia (HP:0002153)2.10319369
126Abnormal enzyme/coenzyme activity (HP:0012379)2.10269448
127Abnormality of the renal cortex (HP:0011035)2.10208789
128Mucopolysacchariduria (HP:0008155)2.07702807
129Urinary glycosaminoglycan excretion (HP:0003541)2.07702807
130Hyperglycinemia (HP:0002154)2.07626383
131Prolonged neonatal jaundice (HP:0006579)2.06397510
132Abnormality of alkaline phosphatase activity (HP:0004379)2.05785882
133Hypoplasia of the uterus (HP:0000013)2.04199758
134Adrenal overactivity (HP:0002717)2.01723233
135Vomiting (HP:0002013)2.01166576
136Vaginal atresia (HP:0000148)2.00892668
137Overgrowth (HP:0001548)2.00661574
138Sclerocornea (HP:0000647)2.00400480
139Hypoglycemic seizures (HP:0002173)2.00371162
140Pancreatitis (HP:0001733)2.00336085
141Confusion (HP:0001289)1.99768338
142Tachypnea (HP:0002789)1.99623172
143Malnutrition (HP:0004395)1.99601575
144Abnormality of renal resorption (HP:0011038)1.99336434
145Late onset (HP:0003584)1.99249693
146Focal seizures (HP:0007359)1.99167611
147Pendular nystagmus (HP:0012043)1.98296869
148Aplasia/Hypoplasia of the tibia (HP:0005772)1.97746880
149Abnormality of mucopolysaccharide metabolism (HP:0011020)1.96205101
150Abnormality of polysaccharide metabolism (HP:0011012)1.96205101
151Abnormality of glycosaminoglycan metabolism (HP:0004371)1.96205101
152Hyponatremia (HP:0002902)1.95561120
153Absent speech (HP:0001344)1.95518028
154Methylmalonic aciduria (HP:0012120)1.94760789
155Chorioretinal coloboma (HP:0000567)1.93325382
156Renal tubular dysfunction (HP:0000124)1.92926637
157Cardiovascular calcification (HP:0011915)1.92082800
1583-Methylglutaconic aciduria (HP:0003535)1.91375482
159Abnormality of sulfur amino acid metabolism (HP:0004339)1.91292728
160Lissencephaly (HP:0001339)1.91202103
161Postaxial foot polydactyly (HP:0001830)1.90536434
162Bilateral sensorineural hearing impairment (HP:0008619)1.89576953
163Metaphyseal dysplasia (HP:0100255)1.89067198
164Lethargy (HP:0001254)1.88515562
165Polyphagia (HP:0002591)1.87851468
166Broad-based gait (HP:0002136)1.87416776
167Type II lissencephaly (HP:0007260)1.86990001
168Gaze-evoked nystagmus (HP:0000640)1.86406397
169Elevated alkaline phosphatase (HP:0003155)1.86218086
170Congenital hepatic fibrosis (HP:0002612)1.86057901
171Decreased central vision (HP:0007663)1.85569942
172Progressive cerebellar ataxia (HP:0002073)1.85387530
173Abnormal rod and cone electroretinograms (HP:0008323)1.83963749
174Occipital encephalocele (HP:0002085)1.83148458
175Small hand (HP:0200055)1.82815600
176Narrow forehead (HP:0000341)1.80019444
177Aplasia/Hypoplasia of the spleen (HP:0010451)1.79381405
178Male pseudohermaphroditism (HP:0000037)1.78624060
179Widely spaced teeth (HP:0000687)1.77534962
180Esophageal atresia (HP:0002032)1.77184806
181Agitation (HP:0000713)1.77007713
182Postaxial hand polydactyly (HP:0001162)1.75337526
183Dialeptic seizures (HP:0011146)1.74926246
184Hypoplasia of the fovea (HP:0007750)1.73897766
185Aplasia/Hypoplasia of the fovea (HP:0008060)1.73897766
186Anophthalmia (HP:0000528)1.73629270
187Furrowed tongue (HP:0000221)1.72623036

Predicted kinase interactions (KEA)

RankGene SetZ-score
1WNK47.37182763
2WNK36.23373444
3NTRK24.81056807
4OXSR14.76085621
5BCKDK3.89972362
6TRIM282.98610738
7FLT32.97807580
8CASK2.92152889
9MAP4K22.83685635
10PINK12.68438757
11STK38L2.61156498
12IRAK32.39976541
13STK392.33571453
14INSRR2.24663434
15MARK12.24534185
16MAPK132.10296905
17ACVR1B1.97649187
18TAOK31.97614148
19KIT1.92733396
20BCR1.85885261
21BMPR1B1.69538908
22NUAK11.67893833
23SIK31.62085735
24MAP3K41.59366930
25PAK31.57536227
26WNK11.47017019
27STK31.41287061
28CSNK1G21.40812211
29AKT31.38132760
30FRK1.36416928
31NME21.31800755
32TEC1.30288557
33PLK21.29228968
34PIK3CG1.28456946
35MKNK21.23030168
36ADRBK21.22692628
37MAP3K141.21909711
38PLK41.19597778
39IRAK11.19315273
40FGFR41.18695226
41DYRK21.18414032
42TGFBR21.18328953
43TXK1.17423944
44MAPKAPK51.16332601
45IRAK41.15800770
46NEK11.15045532
47CSNK1A1L1.09737457
48GRK11.09521936
49NTRK31.07626801
50TIE11.05262094
51ZAK1.02609277
52MARK31.02401284
53ERN11.02367871
54DYRK30.97796097
55MAP2K70.97614249
56TNIK0.97355318
57MST1R0.96122106
58STK160.94422274
59MKNK10.92406632
60BTK0.88121693
61VRK10.86259897
62SGK4940.85588185
63SGK2230.85588185
64DYRK1A0.85174431
65MAPK150.83724289
66SIK10.82350064
67MINK10.81640737
68PHKG20.81054919
69PHKG10.81054919
70MAP3K70.80591380
71STK380.76607147
72MUSK0.76506673
73PRKCG0.75310095
74DYRK1B0.74885313
75CAMK2A0.73597749
76CSF1R0.70981914
77TLK10.70516253
78ADRBK10.70475938
79TBK10.70314642
80PDK30.67976760
81PDK40.67976760
82BMPR20.67605657
83SGK20.67353203
84MST40.66233764
85TAF10.65784929
86DAPK20.63095656
87PRKD20.62488874
88PDK20.61404687
89NLK0.60473355
90CSNK1A10.58743642
91SIK20.58668950
92PRKAA10.57577424
93STK240.56933085
94PRKACA0.56118851
95CCNB10.56032739
96UHMK10.55745267
97MAPK110.53452120
98EPHB10.52748346
99JAK30.52612382
100BLK0.52348859
101TYK20.52328965
102BRSK20.51434550
103ZAP700.51353890
104PLK30.50367179
105PKN10.50244104
106EPHA30.49855248
107PTK20.48300681
108PASK0.47331885
109PRKAA20.46899700
110IRAK20.46497964
111EPHA20.44793930
112PTK2B0.44730623
113KSR10.44593453
114SYK0.44543244
115CAMK2B0.44029190
116PRKACB0.42601190
117ERBB20.42441710
118IKBKE0.42410468
119PTK60.42028945
120EIF2AK30.41919690
121PRKG10.41884541
122SGK30.40168815
123GSK3A0.39927283
124CAMK40.39579898
125HIPK20.39363483
126PRKCD0.38266037
127PRKCE0.38179457
128ITK0.38075060
129RPS6KA50.38002305
130YES10.36493423
131PRKACG0.35844270
132MAP2K40.35827137
133CSNK1D0.34535776
134EPHB20.34415738
135MAP3K30.34249435
136FER0.34054086
137SRPK10.33828723
138CDK50.33454095
139OBSCN0.33435941
140EIF2AK20.33427985
141PRKG20.33062834
142ERBB30.31648149
143LYN0.31579384
144CAMKK20.31524688
145MAP3K120.31346100
146CAMK2D0.31215868
147PRKCA0.31195911
148ABL10.31153604
149CSNK1G10.31030484
150EGFR0.30828727
151PRKCB0.30144597
152IKBKB0.29729410
153JAK20.29700912
154FGFR10.28788983
155IGF1R0.28444573
156SGK10.28205193
157CHUK0.27085229
158PRKCH0.27027969
159PRKCI0.26915745
160MAP2K20.25573795
161RIPK10.23468195
162CSNK1G30.23305141
163MET0.23272313
164MAP4K10.22999910
165RIPK40.22842642
166ABL20.22573197

Predicted pathways (KEGG)

RankGene SetZ-score
1Cyanoamino acid metabolism_Homo sapiens_hsa004603.21265845
2Valine, leucine and isoleucine degradation_Homo sapiens_hsa002803.14619205
3Maturity onset diabetes of the young_Homo sapiens_hsa049503.13333456
4Olfactory transduction_Homo sapiens_hsa047403.06931056
5Butanoate metabolism_Homo sapiens_hsa006502.97271674
6Pentose and glucuronate interconversions_Homo sapiens_hsa000402.92761791
7Nicotine addiction_Homo sapiens_hsa050332.87782272
8Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.85711594
9Peroxisome_Homo sapiens_hsa041462.73585308
10Tryptophan metabolism_Homo sapiens_hsa003802.72569302
11Propanoate metabolism_Homo sapiens_hsa006402.66165884
12alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.58618873
13Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.53487154
14Other glycan degradation_Homo sapiens_hsa005112.52326429
15Phototransduction_Homo sapiens_hsa047442.45548676
16GABAergic synapse_Homo sapiens_hsa047272.44931695
17Linoleic acid metabolism_Homo sapiens_hsa005912.41902432
18Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.40935180
19Morphine addiction_Homo sapiens_hsa050322.29286422
20Sulfur metabolism_Homo sapiens_hsa009202.27229332
21Taste transduction_Homo sapiens_hsa047422.25750013
22Collecting duct acid secretion_Homo sapiens_hsa049662.22964692
23Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.22480437
24Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.16829907
25Vitamin digestion and absorption_Homo sapiens_hsa049772.15605478
26beta-Alanine metabolism_Homo sapiens_hsa004102.13483352
27Fatty acid degradation_Homo sapiens_hsa000712.13149679
28Circadian entrainment_Homo sapiens_hsa047132.12782417
29Glutamatergic synapse_Homo sapiens_hsa047241.98802697
30Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.97642193
31Primary bile acid biosynthesis_Homo sapiens_hsa001201.87909098
32Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.82534778
33Pyruvate metabolism_Homo sapiens_hsa006201.80383369
34Protein export_Homo sapiens_hsa030601.78387077
35Histidine metabolism_Homo sapiens_hsa003401.74824553
36Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.73729954
372-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.71008110
38Ether lipid metabolism_Homo sapiens_hsa005651.69483612
39Folate biosynthesis_Homo sapiens_hsa007901.68061689
40Salivary secretion_Homo sapiens_hsa049701.66639027
41Arginine and proline metabolism_Homo sapiens_hsa003301.66438359
42Ovarian steroidogenesis_Homo sapiens_hsa049131.64812678
43* Serotonergic synapse_Homo sapiens_hsa047261.48502312
44Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.42602191
45Fatty acid metabolism_Homo sapiens_hsa012121.33001908
46Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.32135603
47Cholinergic synapse_Homo sapiens_hsa047251.31979180
48Fat digestion and absorption_Homo sapiens_hsa049751.29468236
49Glutathione metabolism_Homo sapiens_hsa004801.25569176
50Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.25343094
51Bile secretion_Homo sapiens_hsa049761.23571976
52* Cocaine addiction_Homo sapiens_hsa050301.21755386
53ABC transporters_Homo sapiens_hsa020101.19277074
54Lysosome_Homo sapiens_hsa041421.18591363
55Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.16877449
56Starch and sucrose metabolism_Homo sapiens_hsa005001.15835834
57Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.11684875
58Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.11062600
59* Dopaminergic synapse_Homo sapiens_hsa047281.10813582
60Steroid hormone biosynthesis_Homo sapiens_hsa001401.08647061
61Selenocompound metabolism_Homo sapiens_hsa004501.06819454
62RNA degradation_Homo sapiens_hsa030181.06565228
63Lysine degradation_Homo sapiens_hsa003101.06413370
64Glycosaminoglycan degradation_Homo sapiens_hsa005311.05706905
65Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.01271895
66Phenylalanine metabolism_Homo sapiens_hsa003601.00696895
67Caffeine metabolism_Homo sapiens_hsa002321.00453604
68Protein digestion and absorption_Homo sapiens_hsa049740.99147472
69Sulfur relay system_Homo sapiens_hsa041220.98973602
70Aldosterone synthesis and secretion_Homo sapiens_hsa049250.98177764
71Gastric acid secretion_Homo sapiens_hsa049710.97830173
72Vascular smooth muscle contraction_Homo sapiens_hsa042700.97677736
73Parkinsons disease_Homo sapiens_hsa050120.95997247
74Non-homologous end-joining_Homo sapiens_hsa034500.93967664
75Dorso-ventral axis formation_Homo sapiens_hsa043200.93788507
76Carbon metabolism_Homo sapiens_hsa012000.93262867
77Vibrio cholerae infection_Homo sapiens_hsa051100.92323440
78PPAR signaling pathway_Homo sapiens_hsa033200.91972813
79Pancreatic secretion_Homo sapiens_hsa049720.91820433
80Basal transcription factors_Homo sapiens_hsa030220.91658302
81Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.91269612
82Calcium signaling pathway_Homo sapiens_hsa040200.90872537
83* Amphetamine addiction_Homo sapiens_hsa050310.90430732
84Arginine biosynthesis_Homo sapiens_hsa002200.89837862
85Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.89223555
86Carbohydrate digestion and absorption_Homo sapiens_hsa049730.88171707
87Gap junction_Homo sapiens_hsa045400.87796927
88Mineral absorption_Homo sapiens_hsa049780.86769862
89Fanconi anemia pathway_Homo sapiens_hsa034600.85885606
90Sphingolipid metabolism_Homo sapiens_hsa006000.83265221
91Homologous recombination_Homo sapiens_hsa034400.82114906
92Rheumatoid arthritis_Homo sapiens_hsa053230.76735211
93Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.74698832
94Circadian rhythm_Homo sapiens_hsa047100.70900637
95* Synaptic vesicle cycle_Homo sapiens_hsa047210.70814062
96Drug metabolism - other enzymes_Homo sapiens_hsa009830.68214670
97Oxidative phosphorylation_Homo sapiens_hsa001900.67716545
98Fatty acid elongation_Homo sapiens_hsa000620.67434513
99Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.66854024
100Long-term depression_Homo sapiens_hsa047300.65833727
101Metabolic pathways_Homo sapiens_hsa011000.65051540
102Fructose and mannose metabolism_Homo sapiens_hsa000510.64836496
103Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.64552933
104Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.64120994
105Renin secretion_Homo sapiens_hsa049240.62738401
106Asthma_Homo sapiens_hsa053100.61891163
107Renin-angiotensin system_Homo sapiens_hsa046140.60393786
108Chemical carcinogenesis_Homo sapiens_hsa052040.60121201
109Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.59338616
110Steroid biosynthesis_Homo sapiens_hsa001000.57995833
111Retinol metabolism_Homo sapiens_hsa008300.57351520
112Huntingtons disease_Homo sapiens_hsa050160.57186697
113Glycerolipid metabolism_Homo sapiens_hsa005610.56566521
114cAMP signaling pathway_Homo sapiens_hsa040240.55066370
115Oxytocin signaling pathway_Homo sapiens_hsa049210.54558314
116Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.53948009
117Arachidonic acid metabolism_Homo sapiens_hsa005900.52632351
118Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.52099784
119Galactose metabolism_Homo sapiens_hsa000520.51134418
120Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.50537651
121Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.50370465
122Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.49668077
123Axon guidance_Homo sapiens_hsa043600.48340545
124Tyrosine metabolism_Homo sapiens_hsa003500.48282818
125Type I diabetes mellitus_Homo sapiens_hsa049400.46727409
126Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.46586187
127Alzheimers disease_Homo sapiens_hsa050100.45407389
128Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.45365011
129RNA polymerase_Homo sapiens_hsa030200.43870098
130Regulation of autophagy_Homo sapiens_hsa041400.42712887
131NF-kappa B signaling pathway_Homo sapiens_hsa040640.42351810
132Pentose phosphate pathway_Homo sapiens_hsa000300.42154722
133Nitrogen metabolism_Homo sapiens_hsa009100.41578892
134Purine metabolism_Homo sapiens_hsa002300.41409664
135Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.41108213
136Melanogenesis_Homo sapiens_hsa049160.40626226
137Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.40494370
138* Alcoholism_Homo sapiens_hsa050340.40145212
139Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.39524576
140Thyroid hormone synthesis_Homo sapiens_hsa049180.37682268
141Fatty acid biosynthesis_Homo sapiens_hsa000610.36522960
142Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.34168083
143Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.33779521
144Insulin secretion_Homo sapiens_hsa049110.33077602
145Biosynthesis of amino acids_Homo sapiens_hsa012300.31187756
146Cysteine and methionine metabolism_Homo sapiens_hsa002700.30897621
147Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.30501692
148N-Glycan biosynthesis_Homo sapiens_hsa005100.28146704
149Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.24928962
150Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.22976523
151Phagosome_Homo sapiens_hsa041450.21996990
152Tuberculosis_Homo sapiens_hsa051520.21351763
153Toll-like receptor signaling pathway_Homo sapiens_hsa046200.21207552
154Hepatitis C_Homo sapiens_hsa051600.18147764
155Hematopoietic cell lineage_Homo sapiens_hsa046400.17949718
156African trypanosomiasis_Homo sapiens_hsa051430.15480130
157Intestinal immune network for IgA production_Homo sapiens_hsa046720.14311393

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