BSND

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





Description: This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1urate metabolic process (GO:0046415)9.32544846
2aminoglycoside antibiotic metabolic process (GO:0030647)9.32138700
3drug transmembrane transport (GO:0006855)9.09971226
4excretion (GO:0007588)8.21687908
5lysine catabolic process (GO:0006554)8.06777924
6lysine metabolic process (GO:0006553)8.06777924
7response to mercury ion (GO:0046689)7.96386401
8organic cation transport (GO:0015695)7.80805577
9drug transport (GO:0015893)7.63103880
10phosphate ion transport (GO:0006817)7.32742419
11renal absorption (GO:0070293)7.19591530
12metanephric nephron tubule development (GO:0072234)6.45085108
13metanephric tubule development (GO:0072170)6.45085108
14polyol transport (GO:0015791)6.37878761
15quaternary ammonium group transport (GO:0015697)6.36322008
16glyoxylate metabolic process (GO:0046487)6.10733276
17phosphate ion transmembrane transport (GO:0035435)6.01966420
18metanephric nephron epithelium development (GO:0072243)5.92755377
19cysteine metabolic process (GO:0006534)5.73599523
20aspartate family amino acid catabolic process (GO:0009068)5.67652724
21tricarboxylic acid metabolic process (GO:0072350)5.67198602
22drug catabolic process (GO:0042737)5.57549090
23metanephric epithelium development (GO:0072207)5.45134581
24exogenous drug catabolic process (GO:0042738)5.35679374
25behavioral response to nicotine (GO:0035095)5.31476865
26short-chain fatty acid metabolic process (GO:0046459)5.17522733
27branched-chain amino acid metabolic process (GO:0009081)5.03943787
28nonribosomal peptide biosynthetic process (GO:0019184)4.98306665
29carnitine transport (GO:0015879)4.84742268
30amino-acid betaine transport (GO:0015838)4.84742268
31nephron tubule development (GO:0072080)4.81961172
32homocysteine metabolic process (GO:0050667)4.76771100
33valine metabolic process (GO:0006573)4.72187678
342-oxoglutarate metabolic process (GO:0006103)4.69254549
35erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.68943662
36L-phenylalanine metabolic process (GO:0006558)4.68943662
37erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.67860592
38L-phenylalanine catabolic process (GO:0006559)4.67860592
39vitamin D metabolic process (GO:0042359)4.63652180
40toxin transport (GO:1901998)4.61048378
41response to pheromone (GO:0019236)4.54703280
42trivalent inorganic anion homeostasis (GO:0072506)4.53320264
43phosphate ion homeostasis (GO:0055062)4.53320264
44aromatic amino acid family catabolic process (GO:0009074)4.49011273
45fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.47032893
46tryptophan metabolic process (GO:0006568)4.45707694
47L-fucose catabolic process (GO:0042355)4.44991049
48fucose catabolic process (GO:0019317)4.44991049
49L-fucose metabolic process (GO:0042354)4.44991049
50glutathione biosynthetic process (GO:0006750)4.40843820
51branched-chain amino acid catabolic process (GO:0009083)4.27896626
52renal tubule development (GO:0061326)4.26985136
53indole-containing compound catabolic process (GO:0042436)4.24809749
54indolalkylamine catabolic process (GO:0046218)4.24809749
55tryptophan catabolic process (GO:0006569)4.24809749
56platelet dense granule organization (GO:0060155)4.23245890
57DNA deamination (GO:0045006)4.22724227
58modified amino acid transport (GO:0072337)4.20370687
59fatty acid beta-oxidation (GO:0006635)4.18840039
60collecting duct development (GO:0072044)4.14036833
61amino-acid betaine metabolic process (GO:0006577)4.13973961
62cellular modified amino acid catabolic process (GO:0042219)4.13225811
63NADH metabolic process (GO:0006734)4.11006098
64proline metabolic process (GO:0006560)4.04943391
65glycoside metabolic process (GO:0016137)4.02132647
66nephron epithelium development (GO:0072009)3.97520414
67serine family amino acid catabolic process (GO:0009071)3.92903991
68carnitine metabolic process (GO:0009437)3.91969346
69detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.89317191
70serine family amino acid metabolic process (GO:0009069)3.89152444
71fructose metabolic process (GO:0006000)3.86735195
72acetyl-CoA metabolic process (GO:0006084)3.86255418
73fatty acid oxidation (GO:0019395)3.85959814
74cellular ketone body metabolic process (GO:0046950)3.84465680
75lipid oxidation (GO:0034440)3.78301801
76actin filament depolymerization (GO:0030042)3.70291910
77cell volume homeostasis (GO:0006884)3.65082020
78nephron tubule morphogenesis (GO:0072078)3.64905905
79nephron epithelium morphogenesis (GO:0072088)3.64905905
80water-soluble vitamin biosynthetic process (GO:0042364)3.64783716
81detection of light stimulus involved in sensory perception (GO:0050962)3.63455249
82detection of light stimulus involved in visual perception (GO:0050908)3.63455249
83glutamate metabolic process (GO:0006536)3.59660439
84one-carbon compound transport (GO:0019755)3.54630907
85peptide biosynthetic process (GO:0043043)3.53936625
86negative regulation of telomere maintenance (GO:0032205)3.50340213
87axoneme assembly (GO:0035082)3.50092114
88transepithelial transport (GO:0070633)3.49003423
89cellular amino acid catabolic process (GO:0009063)3.48386862
90piRNA metabolic process (GO:0034587)3.48297851
91aromatic amino acid family metabolic process (GO:0009072)3.46331059
92fatty acid catabolic process (GO:0009062)3.44433153
93kynurenine metabolic process (GO:0070189)3.44373876
94response to phenylpropanoid (GO:0080184)3.42300977
95sodium ion transport (GO:0006814)3.42183300
96kidney morphogenesis (GO:0060993)3.41733941
97biotin metabolic process (GO:0006768)3.41474128
98regulation of meiosis I (GO:0060631)3.40858120
99indole-containing compound metabolic process (GO:0042430)3.40718340
100tricarboxylic acid cycle (GO:0006099)3.39231600
101oxaloacetate metabolic process (GO:0006107)3.37778904
102alpha-amino acid catabolic process (GO:1901606)3.37268870
103monocarboxylic acid catabolic process (GO:0072329)3.36620749
104centriole replication (GO:0007099)3.35903012
105sulfur amino acid catabolic process (GO:0000098)3.35895555
106response to copper ion (GO:0046688)3.34186528
107ketone body metabolic process (GO:1902224)3.29078435
108oligosaccharide catabolic process (GO:0009313)3.28232056
109vitamin transport (GO:0051180)3.27586903
110response to growth hormone (GO:0060416)3.25932280
111indolalkylamine metabolic process (GO:0006586)3.25903277
112organic acid catabolic process (GO:0016054)3.25510686
113carboxylic acid catabolic process (GO:0046395)3.25510686
114glutathione metabolic process (GO:0006749)3.25282936
115response to parathyroid hormone (GO:0071107)3.23379853
116beta-amyloid metabolic process (GO:0050435)3.20392482
117behavioral response to ethanol (GO:0048149)3.18593268
118peptide catabolic process (GO:0043171)3.18081969
119respiratory chain complex IV assembly (GO:0008535)3.16197006
120neural tube formation (GO:0001841)3.15042137
121epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.10005168
122regulation of cilium movement (GO:0003352)3.05402366
123positive regulation of fatty acid transport (GO:2000193)3.04354753
124positive regulation of prostaglandin secretion (GO:0032308)3.03303123
125nonmotile primary cilium assembly (GO:0035058)2.98599310
126sulfation (GO:0051923)2.96978413
127epithelial cilium movement (GO:0003351)2.94640784
128negative regulation of cytosolic calcium ion concentration (GO:0051481)2.91274588
129protein polyglutamylation (GO:0018095)2.90646646
130preassembly of GPI anchor in ER membrane (GO:0016254)2.90184954
131gamma-aminobutyric acid transport (GO:0015812)2.88715702
132neuronal action potential (GO:0019228)2.86744023
133base-excision repair, AP site formation (GO:0006285)2.86258832
134photoreceptor cell maintenance (GO:0045494)2.82098067
135positive regulation of oligodendrocyte differentiation (GO:0048714)2.81059031
136mannosylation (GO:0097502)2.79928263
137replication fork processing (GO:0031297)2.78298304
138cytochrome complex assembly (GO:0017004)2.77833817
139regulation of rhodopsin mediated signaling pathway (GO:0022400)2.74278969
140mitotic cell cycle arrest (GO:0071850)2.72936499
141negative regulation of mast cell activation (GO:0033004)2.72133431
142multicellular organism reproduction (GO:0032504)2.69629330
143protein-cofactor linkage (GO:0018065)2.68126712
144DNA methylation involved in gamete generation (GO:0043046)2.66588811
145regulation of microtubule-based movement (GO:0060632)2.66228353
146rhodopsin mediated signaling pathway (GO:0016056)2.66057496
147dopamine transport (GO:0015872)2.63375334
148cellular response to ATP (GO:0071318)2.63114949
149protein localization to cilium (GO:0061512)2.62193313
150ubiquinone biosynthetic process (GO:0006744)2.61575843
151auditory receptor cell stereocilium organization (GO:0060088)2.59576920
152G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.58133014
153negative regulation of reactive oxygen species metabolic process (GO:2000378)2.57733622
154cilium morphogenesis (GO:0060271)2.57371261
155positive regulation of icosanoid secretion (GO:0032305)2.56815581
156fucosylation (GO:0036065)2.56576804
157pyrimidine nucleobase catabolic process (GO:0006208)2.55254772
158S-adenosylmethionine metabolic process (GO:0046500)2.55198635
159phosphatidylinositol acyl-chain remodeling (GO:0036149)2.50489553
160cellular biogenic amine catabolic process (GO:0042402)2.49695469
161amine catabolic process (GO:0009310)2.49695469
162regulation of neurotransmitter uptake (GO:0051580)2.49551289
163inner ear receptor stereocilium organization (GO:0060122)2.49050183
164positive regulation of organic acid transport (GO:0032892)2.48861102
165reflex (GO:0060004)2.48722664
166protein complex biogenesis (GO:0070271)2.48700487
167L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.47812107
168positive regulation of meiosis (GO:0045836)2.47680219
169regulation of glucokinase activity (GO:0033131)2.47557143
170regulation of hexokinase activity (GO:1903299)2.47557143
171polyol catabolic process (GO:0046174)2.47543395
172reciprocal DNA recombination (GO:0035825)2.47283658
173reciprocal meiotic recombination (GO:0007131)2.47283658
174negative regulation of cAMP-mediated signaling (GO:0043951)2.44891647
175retinal cone cell development (GO:0046549)2.43498001
176ubiquinone metabolic process (GO:0006743)2.42330536
177cornea development in camera-type eye (GO:0061303)2.42231132
178regulation of telomere maintenance (GO:0032204)2.38439474
179membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.37391032
180inositol phosphate catabolic process (GO:0071545)2.37142739
181L-methionine salvage (GO:0071267)2.36837555
182L-methionine biosynthetic process (GO:0071265)2.36837555
183amino acid salvage (GO:0043102)2.36837555
184male meiosis (GO:0007140)2.36434861
185regulation of prostaglandin secretion (GO:0032306)2.35988140
186synaptic transmission, cholinergic (GO:0007271)2.34327854
187double-strand break repair via homologous recombination (GO:0000724)2.33896476
188proline transport (GO:0015824)2.33328542
189regulation of nuclear cell cycle DNA replication (GO:0033262)2.33088088
190recombinational repair (GO:0000725)2.32527471
191neuronal action potential propagation (GO:0019227)2.32220246

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse5.17970837
2RXR_22158963_ChIP-Seq_LIVER_Mouse4.32707002
3ZNF274_21170338_ChIP-Seq_K562_Hela4.01620524
4PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.90032479
5ESR1_21235772_ChIP-Seq_MCF-7_Human3.80121812
6PPARA_22158963_ChIP-Seq_LIVER_Mouse3.54239264
7LXR_22158963_ChIP-Seq_LIVER_Mouse3.25378832
8TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.05756903
9GBX2_23144817_ChIP-Seq_PC3_Human2.99753695
10CHD7_19251738_ChIP-ChIP_MESCs_Mouse2.93198812
11GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.69202136
12ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.57038420
13IGF1R_20145208_ChIP-Seq_DFB_Human2.55878255
14ESR2_21235772_ChIP-Seq_MCF-7_Human2.55512141
15TRIM28_21343339_ChIP-Seq_HEK293_Human2.47470063
16ZFP57_27257070_Chip-Seq_ESCs_Mouse2.46848704
17TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.42821138
18POU3F2_20337985_ChIP-ChIP_501MEL_Human2.33207339
19FLI1_27457419_Chip-Seq_LIVER_Mouse2.28251354
20RARG_19884340_ChIP-ChIP_MEFs_Mouse2.27795314
21TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.18913892
22HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.18478419
23CTBP2_25329375_ChIP-Seq_LNCAP_Human2.15391453
24CLOCK_20551151_ChIP-Seq_293T_Human2.11272930
25CDX2_20551321_ChIP-Seq_CACO-2_Human2.11230949
26NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.10476514
27EWS_26573619_Chip-Seq_HEK293_Human2.03302684
28EZH2_22144423_ChIP-Seq_EOC_Human1.98965052
29CTBP1_25329375_ChIP-Seq_LNCAP_Human1.97495238
30P300_19829295_ChIP-Seq_ESCs_Human1.95118210
31ER_23166858_ChIP-Seq_MCF-7_Human1.89884188
32CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.85303029
33PCGF2_27294783_Chip-Seq_ESCs_Mouse1.84677222
34HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.83876128
35TAF15_26573619_Chip-Seq_HEK293_Human1.82890096
36ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.78756188
37FUS_26573619_Chip-Seq_HEK293_Human1.76440042
38EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.71185284
39BCAT_22108803_ChIP-Seq_LS180_Human1.69705508
40SALL1_21062744_ChIP-ChIP_HESCs_Human1.69687445
41E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.69496235
42FOXO3_23340844_ChIP-Seq_DLD1_Human1.67170665
43TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.64409029
44SOX2_27498859_Chip-Seq_STOMACH_Mouse1.63807493
45ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.61141105
46NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.60932058
47UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.59332334
48TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.58530201
49MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.57828280
50TP53_22573176_ChIP-Seq_HFKS_Human1.56981769
51FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.55461555
52AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.54593853
53STAT3_23295773_ChIP-Seq_U87_Human1.54494413
54RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.53722797
55PIAS1_25552417_ChIP-Seq_VCAP_Human1.53229544
56CBP_20019798_ChIP-Seq_JUKART_Human1.51654449
57IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.51654449
58GATA4_25053715_ChIP-Seq_YYC3_Human1.49627101
59SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.49484979
60VDR_22108803_ChIP-Seq_LS180_Human1.48924373
61MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.47036150
62NOTCH1_21737748_ChIP-Seq_TLL_Human1.45659311
63IRF1_19129219_ChIP-ChIP_H3396_Human1.44854198
64SMAD4_21799915_ChIP-Seq_A2780_Human1.44061119
65EGR1_23403033_ChIP-Seq_LIVER_Mouse1.43187556
66SUZ12_27294783_Chip-Seq_NPCs_Mouse1.42436770
67FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.40487004
68NANOG_19829295_ChIP-Seq_ESCs_Human1.40298317
69SOX2_19829295_ChIP-Seq_ESCs_Human1.40298317
70SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.40179859
71AR_25329375_ChIP-Seq_VCAP_Human1.38878067
72ERG_21242973_ChIP-ChIP_JURKAT_Human1.38679521
73FOXA2_19822575_ChIP-Seq_HepG2_Human1.38589949
74PCGF2_27294783_Chip-Seq_NPCs_Mouse1.38442020
75RACK7_27058665_Chip-Seq_MCF-7_Human1.37867205
76HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.37224997
77FOXA1_27270436_Chip-Seq_PROSTATE_Human1.36743991
78FOXA1_25329375_ChIP-Seq_VCAP_Human1.36743991
79NR3C1_21868756_ChIP-Seq_MCF10A_Human1.36544539
80TCF4_23295773_ChIP-Seq_U87_Human1.36245676
81NFE2_27457419_Chip-Seq_LIVER_Mouse1.35699735
82TCF4_22108803_ChIP-Seq_LS180_Human1.35463297
83SMAD3_21741376_ChIP-Seq_HESCs_Human1.34981553
84GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.34436245
85AR_21909140_ChIP-Seq_LNCAP_Human1.34204816
86MYC_18940864_ChIP-ChIP_HL60_Human1.33808772
87EGR1_19032775_ChIP-ChIP_M12_Human1.33535092
88EZH2_27294783_Chip-Seq_NPCs_Mouse1.32977605
89STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.32089043
90MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.30433166
91HNF4A_19822575_ChIP-Seq_HepG2_Human1.30167461
92PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.29459104
93GABP_17652178_ChIP-ChIP_JURKAT_Human1.29103242
94KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.28248745
95GATA3_21878914_ChIP-Seq_MCF-7_Human1.27174823
96* NCOR_22424771_ChIP-Seq_293T_Human1.26964911
97* LXR_22292898_ChIP-Seq_THP-1_Human1.26503870
98SMAD3_21741376_ChIP-Seq_EPCs_Human1.26257635
99HOXB7_26014856_ChIP-Seq_BT474_Human1.26001757
100CDX2_19796622_ChIP-Seq_MESCs_Mouse1.25980177
101SMAD4_21741376_ChIP-Seq_EPCs_Human1.25665621
102REST_21632747_ChIP-Seq_MESCs_Mouse1.24496688
103EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.23296418
104ETV2_25802403_ChIP-Seq_MESCs_Mouse1.22933936
105AR_20517297_ChIP-Seq_VCAP_Human1.22746096
106* KLF5_20875108_ChIP-Seq_MESCs_Mouse1.22332404
107STAT3_1855785_ChIP-Seq_MESCs_Mouse1.21217552
108POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.21211321
109TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.21211321
110TBX20_22328084_ChIP-Seq_HEART_Mouse1.19618074
111TBX20_22080862_ChIP-Seq_HEART_Mouse1.19618074
112BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.18470599
113TOP2B_26459242_ChIP-Seq_MCF-7_Human1.18353778
114RUNX2_22187159_ChIP-Seq_PCA_Human1.18109310
115PPAR_26484153_Chip-Seq_NCI-H1993_Human1.16098605
116GATA6_25053715_ChIP-Seq_YYC3_Human1.16088389
117LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.15754270
118OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.15481652
119AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.15063186
120NANOG_18555785_Chip-Seq_ESCs_Mouse1.14466265
121SOX2_20726797_ChIP-Seq_SW620_Human1.14019305
122FOXA1_21572438_ChIP-Seq_LNCaP_Human1.13730895
123FLI1_21867929_ChIP-Seq_TH2_Mouse1.13123950
124CRX_20693478_ChIP-Seq_RETINA_Mouse1.12939885
125EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.12459543
126TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.11500850
127P53_22387025_ChIP-Seq_ESCs_Mouse1.11427384
128PRDM14_20953172_ChIP-Seq_ESCs_Human1.11291304
129P63_20808887_ChIP-Seq_KERATINOCYTES_Human1.10465949
130RNF2_27304074_Chip-Seq_NSC_Mouse1.09808421
131BMI1_23680149_ChIP-Seq_NPCS_Mouse1.09713740
132TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.09180020
133CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.09081956
134CBX2_27304074_Chip-Seq_ESCs_Mouse1.07755937
135SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.07459931
136IRF8_22096565_ChIP-ChIP_GC-B_Human1.07418420
137BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.06209595
138STAT3_18555785_Chip-Seq_ESCs_Mouse1.05818179
139* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.05471609
140SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.05046729
141ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.02405687
142* AUTS2_25519132_ChIP-Seq_293T-REX_Human1.01844120
143* CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.00442456
144AR_21572438_ChIP-Seq_LNCaP_Human0.99437720
145MYC_19829295_ChIP-Seq_ESCs_Human0.98707484
146RXR_22108803_ChIP-Seq_LS180_Human0.98497596
147MTF2_20144788_ChIP-Seq_MESCs_Mouse0.98388009
148EP300_21415370_ChIP-Seq_HL-1_Mouse0.98094130
149E2F1_18555785_Chip-Seq_ESCs_Mouse0.97981330
150EST1_17652178_ChIP-ChIP_JURKAT_Human0.97864864
151PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.97258583
152PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.97039401
153RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.96352596
154SMAD4_21741376_ChIP-Seq_HESCs_Human0.96135163
155FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.95646846
156SOX11_22085726_ChIP-Seq_ESNs_Mouse0.93726433
157TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.93581064
158SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.90633205
159AHR_22903824_ChIP-Seq_MCF-7_Human0.90455716
160EOMES_21245162_ChIP-Seq_HESCs_Human0.90446789
161SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.90034664
162ZNF217_24962896_ChIP-Seq_MCF-7_Human0.88823240
163FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.87885031
164TP63_23658742_ChIP-Seq_EP156T_Human0.87724095
165GATA1_19941826_ChIP-Seq_K562_Human0.87098926
166GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.86255343
167* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.85946469
168RAC3_21632823_ChIP-Seq_H3396_Human0.85103841
169WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.84833475
170CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.84576523
171RAD21_21589869_ChIP-Seq_MESCs_Mouse0.83689319
172CDX2_22108803_ChIP-Seq_LS180_Human0.83625115
173PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.82705621
174CJUN_26792858_Chip-Seq_BT549_Human0.82236407
175CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.81012813
176SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.80709965
177VDR_24787735_ChIP-Seq_THP-1_Human0.79721391
178WT1_25993318_ChIP-Seq_PODOCYTE_Human0.79404638
179SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.78300575
180TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.77398869
181GATA2_19941826_ChIP-Seq_K562_Human0.77367904
182ARNT_22903824_ChIP-Seq_MCF-7_Human0.77019126
183GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.75841407
184IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.74787256
185NANOG_18692474_ChIP-Seq_MEFs_Mouse0.74268927
186NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.72281043
187NRF2_20460467_ChIP-Seq_MEFs_Mouse0.72281043
188RNF2_18974828_ChIP-Seq_MESCs_Mouse0.71849991
189EZH2_18974828_ChIP-Seq_MESCs_Mouse0.71849991
190P68_20966046_ChIP-Seq_HELA_Human0.71845524
191TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human0.71678738
192PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.70566138
193SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.70025966
194SOX9_24532713_ChIP-Seq_HFSC_Mouse0.69998915

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004043_abnormal_pH_regulation8.41777998
2MP0005360_urolithiasis6.50479184
3MP0003195_calcinosis5.62805739
4MP0005332_abnormal_amino_acid4.56719727
5MP0001756_abnormal_urination4.33058812
6MP0004019_abnormal_vitamin_homeostasis4.26903064
7MP0009643_abnormal_urine_homeostasis4.23097588
8MP0001765_abnormal_ion_homeostasis4.05859544
9MP0002139_abnormal_hepatobiliary_system3.80008065
10MP0002138_abnormal_hepatobiliary_system3.42986386
11MP0005636_abnormal_mineral_homeostasis3.27622482
12MP0002136_abnormal_kidney_physiology3.22026611
13MP0005551_abnormal_eye_electrophysiolog2.76036754
14MP0003878_abnormal_ear_physiology2.60437496
15MP0005377_hearing/vestibular/ear_phenot2.60437496
16MP0008877_abnormal_DNA_methylation2.54843870
17MP0001968_abnormal_touch/_nociception2.42643350
18MP0002102_abnormal_ear_morphology2.39411243
19MP0000569_abnormal_digit_pigmentation2.36629218
20MP0008875_abnormal_xenobiotic_pharmacok2.31334505
21MP0003787_abnormal_imprinting2.25846936
22MP0003252_abnormal_bile_duct2.17793800
23MP0001958_emphysema2.17190981
24MP0006072_abnormal_retinal_apoptosis2.13061995
25MP0002736_abnormal_nociception_after2.09165466
26* MP0004885_abnormal_endolymph2.00868157
27MP0001501_abnormal_sleep_pattern1.99531463
28MP0005646_abnormal_pituitary_gland1.95643050
29MP0003880_abnormal_central_pattern1.95431028
30MP0000538_abnormal_urinary_bladder1.90249697
31MP0005253_abnormal_eye_physiology1.88811089
32MP0009745_abnormal_behavioral_response1.86797498
33MP0002837_dystrophic_cardiac_calcinosis1.86161731
34MP0005365_abnormal_bile_salt1.86072172
35MP0005174_abnormal_tail_pigmentation1.84181985
36MP0004142_abnormal_muscle_tone1.82391136
37MP0008961_abnormal_basal_metabolism1.81624328
38MP0009046_muscle_twitch1.78024569
39MP0005451_abnormal_body_composition1.77092389
40MP0005645_abnormal_hypothalamus_physiol1.68199988
41MP0005085_abnormal_gallbladder_physiolo1.66400710
42MP0002272_abnormal_nervous_system1.57526466
43MP0003186_abnormal_redox_activity1.57153445
44MP0000427_abnormal_hair_cycle1.56016988
45MP0001984_abnormal_olfaction1.55067743
46MP0002168_other_aberrant_phenotype1.53144320
47MP0002638_abnormal_pupillary_reflex1.52763664
48MP0005058_abnormal_lysosome_morphology1.52291531
49MP0001986_abnormal_taste_sensitivity1.50143244
50MP0005584_abnormal_enzyme/coenzyme_acti1.46463270
51MP0005083_abnormal_biliary_tract1.44763831
52MP0002163_abnormal_gland_morphology1.43655199
53MP0003011_delayed_dark_adaptation1.43243404
54MP0001486_abnormal_startle_reflex1.41798525
55MP0003300_gastrointestinal_ulcer1.41372219
56MP0008058_abnormal_DNA_repair1.38255591
57MP0002160_abnormal_reproductive_system1.37752217
58MP0001485_abnormal_pinna_reflex1.36680270
59MP0006276_abnormal_autonomic_nervous1.34881930
60MP0000230_abnormal_systemic_arterial1.32645379
61MP0005389_reproductive_system_phenotype1.32526568
62MP0002938_white_spotting1.31458210
63MP0001529_abnormal_vocalization1.31332390
64MP0002557_abnormal_social/conspecific_i1.28885447
65MP0005379_endocrine/exocrine_gland_phen1.27554260
66MP0001919_abnormal_reproductive_system1.26374960
67MP0010234_abnormal_vibrissa_follicle1.24941461
68MP0002135_abnormal_kidney_morphology1.23784151
69MP0005410_abnormal_fertilization1.22861380
70MP0002928_abnormal_bile_duct1.22313282
71MP0005319_abnormal_enzyme/_coenzyme1.21632091
72MP0002735_abnormal_chemical_nociception1.21556768
73MP0002095_abnormal_skin_pigmentation1.20998078
74MP0002572_abnormal_emotion/affect_behav1.20568434
75MP0000631_abnormal_neuroendocrine_gland1.20491481
76MP0003136_yellow_coat_color1.18160375
77MP0001970_abnormal_pain_threshold1.15993387
78MP0002254_reproductive_system_inflammat1.15629915
79MP0002733_abnormal_thermal_nociception1.14518418
80MP0000372_irregular_coat_pigmentation1.13802576
81MP0004924_abnormal_behavior1.12976076
82MP0005386_behavior/neurological_phenoty1.12976076
83MP0004133_heterotaxia1.09731381
84MP0002876_abnormal_thyroid_physiology1.09633631
85MP0002064_seizures1.07789118
86MP0000015_abnormal_ear_pigmentation1.06655058
87MP0005220_abnormal_exocrine_pancreas1.06090785
88MP0002653_abnormal_ependyma_morphology1.05388972
89MP0006036_abnormal_mitochondrial_physio1.05333951
90MP0001502_abnormal_circadian_rhythm1.04406555
91MP0004145_abnormal_muscle_electrophysio1.04165428
92MP0005671_abnormal_response_to1.00759799
93MP0006292_abnormal_olfactory_placode1.00505693
94MP0006035_abnormal_mitochondrial_morpho1.00105205
95MP0005084_abnormal_gallbladder_morpholo0.98803049
96MP0005195_abnormal_posterior_eye0.98241825
97MP0000534_abnormal_ureter_morphology0.94557159
98MP0000647_abnormal_sebaceous_gland0.93688908
99MP0001764_abnormal_homeostasis0.93352671
100MP0000383_abnormal_hair_follicle0.93228285
101MP0003698_abnormal_male_reproductive0.92970396
102MP0005535_abnormal_body_temperature0.92193461
103* MP0002067_abnormal_sensory_capabilities0.92150371
104MP0003718_maternal_effect0.92136179
105MP0005666_abnormal_adipose_tissue0.91680781
106MP0010386_abnormal_urinary_bladder0.90182567
107MP0005075_abnormal_melanosome_morpholog0.89977832
108MP0001905_abnormal_dopamine_level0.88939174
109MP0003635_abnormal_synaptic_transmissio0.88181768
110MP0002896_abnormal_bone_mineralization0.88130400
111MP0002234_abnormal_pharynx_morphology0.87186046
112MP0004215_abnormal_myocardial_fiber0.86678686
113MP0003806_abnormal_nucleotide_metabolis0.85861669
114MP0005408_hypopigmentation0.84809907
115MP0008775_abnormal_heart_ventricle0.83361347
116MP0005395_other_phenotype0.83208305
117MP0002063_abnormal_learning/memory/cond0.82182434
118MP0002909_abnormal_adrenal_gland0.81670594
119MP0002693_abnormal_pancreas_physiology0.81536184
120MP0001929_abnormal_gametogenesis0.80467455
121MP0003283_abnormal_digestive_organ0.78729364
122MP0004264_abnormal_extraembryonic_tissu0.77680197
123* MP0004742_abnormal_vestibular_system0.77658596
124MP0000371_diluted_coat_color0.75091630
125MP0003172_abnormal_lysosome_physiology0.74948431
126MP0003191_abnormal_cellular_cholesterol0.74762894
127MP0005670_abnormal_white_adipose0.74347563
128MP0003646_muscle_fatigue0.70125073
129MP0000678_abnormal_parathyroid_gland0.68288271
130MP0002089_abnormal_postnatal_growth/wei0.68159991
131MP0002118_abnormal_lipid_homeostasis0.67037369
132MP0001666_abnormal_nutrient_absorption0.66677881
133MP0003329_amyloid_beta_deposits0.66333342
134MP0003638_abnormal_response/metabolism_0.65263630
135MP0009642_abnormal_blood_homeostasis0.65263149
136MP0003879_abnormal_hair_cell0.64652028
137MP0001270_distended_abdomen0.64212090
138MP0003959_abnormal_lean_body0.64179457
139* MP0001963_abnormal_hearing_physiology0.60840809
140MP0002098_abnormal_vibrissa_morphology0.58317947
141MP0004147_increased_porphyrin_level0.57525869
142MP0004272_abnormal_basement_membrane0.57369850
143MP0001177_atelectasis0.55325024
144MP0008872_abnormal_physiological_respon0.52890069
145MP0002796_impaired_skin_barrier0.52858690
146MP0001849_ear_inflammation0.51663080
147MP0002069_abnormal_eating/drinking_beha0.50604502
148MP0004858_abnormal_nervous_system0.50580835
149MP0001661_extended_life_span0.49005256
150MP0005165_increased_susceptibility_to0.48011971
151MP0000747_muscle_weakness0.47128877
152MP0009764_decreased_sensitivity_to0.46347190
153MP0005375_adipose_tissue_phenotype0.45126486
154MP0000609_abnormal_liver_physiology0.44824568
155MP0010329_abnormal_lipoprotein_level0.44386491
156MP0003795_abnormal_bone_structure0.40077231
157MP0002115_abnormal_skeleton_extremities0.39504810
158MP0003953_abnormal_hormone_level0.39256780
159MP0001663_abnormal_digestive_system0.37586142
160MP0008469_abnormal_protein_level0.37426179
161MP0005501_abnormal_skin_physiology0.36825460
162MP0002078_abnormal_glucose_homeostasis0.36615186
163MP0004484_altered_response_of0.34866667
164MP0003315_abnormal_perineum_morphology0.34045579
165MP0001293_anophthalmia0.32235886
166MP0000163_abnormal_cartilage_morphology0.32171960
167MP0000598_abnormal_liver_morphology0.31636633
168MP0005167_abnormal_blood-brain_barrier0.30553415
169MP0002998_abnormal_bone_remodeling0.30222476
170MP0003075_altered_response_to0.28898892
171MP0009672_abnormal_birth_weight0.28329251
172MP0005388_respiratory_system_phenotype0.26668373
173MP0002133_abnormal_respiratory_system0.26668373

Predicted human phenotypes

RankGene SetZ-score
1* Hypokalemic alkalosis (HP:0001949)9.42444976
2* Metabolic alkalosis (HP:0200114)9.02315251
3Increased circulating renin level (HP:0000848)8.93664720
4Hyperactive renin-angiotensin system (HP:0000841)8.67665907
5Hypomagnesemia (HP:0002917)8.05279452
6* Abnormality of chloride homeostasis (HP:0011422)7.82586472
7* Polyuria (HP:0000103)7.55839110
8* Abnormal urine output (HP:0012590)6.99497947
9Abnormality of magnesium homeostasis (HP:0004921)6.88301420
10* Abnormality of renal excretion (HP:0011036)6.45131264
11* Renal salt wasting (HP:0000127)6.30336994
12Abnormal drinking behavior (HP:0030082)6.25899231
13Polydipsia (HP:0001959)6.25899231
14* Hyperaldosteronism (HP:0000859)6.11442519
15Gout (HP:0001997)5.98497616
16Tetany (HP:0001281)5.85820912
17Abnormality of renin-angiotensin system (HP:0000847)5.84301575
18* Alkalosis (HP:0001948)5.62791706
19Increased purine levels (HP:0004368)4.40284889
20Hyperuricemia (HP:0002149)4.40284889
21* Hypokalemia (HP:0002900)4.39959490
22Congenital stationary night blindness (HP:0007642)4.39021347
23Abnormality of cochlea (HP:0000375)4.19021852
24Hypercalciuria (HP:0002150)4.16702058
25Proximal tubulopathy (HP:0000114)4.12401941
26Pancreatic cysts (HP:0001737)4.05345319
27Molar tooth sign on MRI (HP:0002419)3.84976508
28Abnormality of midbrain morphology (HP:0002418)3.84976508
29Abnormality of purine metabolism (HP:0004352)3.80801207
30Pancreatic fibrosis (HP:0100732)3.72792277
31* Abnormality of potassium homeostasis (HP:0011042)3.69284475
32Hyperglycinuria (HP:0003108)3.65382447
33Abnormality of glutamine family amino acid metabolism (HP:0010902)3.55257941
34Nephronophthisis (HP:0000090)3.51484144
35True hermaphroditism (HP:0010459)3.50768772
36Attenuation of retinal blood vessels (HP:0007843)3.45430587
37Renal tubular acidosis (HP:0001947)3.23605806
38* Abnormality of sodium homeostasis (HP:0010931)3.22887594
39* Abnormality of the renal cortex (HP:0011035)3.22102477
40Generalized aminoaciduria (HP:0002909)3.19331445
41Medial flaring of the eyebrow (HP:0010747)3.11943879
42Ketoacidosis (HP:0001993)3.06831775
43Hyperventilation (HP:0002883)3.04019043
44Abnormality of fatty-acid metabolism (HP:0004359)3.01167051
45* Abnormality of the renal medulla (HP:0100957)3.00007523
46Abnormal rod and cone electroretinograms (HP:0008323)2.98846687
47Abnormality of glycine metabolism (HP:0010895)2.96074001
48Abnormality of serine family amino acid metabolism (HP:0010894)2.96074001
49Nephrocalcinosis (HP:0000121)2.93972008
50Type II lissencephaly (HP:0007260)2.89482893
51Abnormality of urine glucose concentration (HP:0011016)2.88301041
52Glycosuria (HP:0003076)2.88301041
53Morphological abnormality of the inner ear (HP:0011390)2.88079781
54* Hyponatremia (HP:0002902)2.85536482
55Decreased circulating renin level (HP:0003351)2.81188419
56* Adrenal overactivity (HP:0002717)2.80636508
57Dehydration (HP:0001944)2.80190566
58Renal cortical cysts (HP:0000803)2.74740136
59Abnormality of nucleobase metabolism (HP:0010932)2.69499884
60Chondrocalcinosis (HP:0000934)2.61826863
61Abolished electroretinogram (ERG) (HP:0000550)2.61461491
62Hyperphosphaturia (HP:0003109)2.59930538
63Chronic hepatic failure (HP:0100626)2.59874120
64Ketosis (HP:0001946)2.55398334
65Methylmalonic acidemia (HP:0002912)2.54580268
66Pendular nystagmus (HP:0012043)2.51259773
67Decreased central vision (HP:0007663)2.48639460
68Dynein arm defect of respiratory motile cilia (HP:0012255)2.47330045
69Absent/shortened dynein arms (HP:0200106)2.47330045
70Abnormality of Sharpey fibers (HP:0100685)2.46910455
71Nephrogenic diabetes insipidus (HP:0009806)2.43959055
72Abnormal urine phosphate concentration (HP:0012599)2.43212837
73Lissencephaly (HP:0001339)2.42220269
74Cystic liver disease (HP:0006706)2.40615423
75Gait imbalance (HP:0002141)2.38558764
76Progressive inability to walk (HP:0002505)2.37125875
77Keratoconus (HP:0000563)2.34576281
78Increased corneal curvature (HP:0100692)2.34576281
79Gaze-evoked nystagmus (HP:0000640)2.32600823
80Decreased electroretinogram (ERG) amplitude (HP:0000654)2.30574627
81Congenital primary aphakia (HP:0007707)2.29779449
82Hydroxyprolinuria (HP:0003080)2.26295434
83Abnormality of proline metabolism (HP:0010907)2.26295434
84Stomach cancer (HP:0012126)2.25420006
85Nephrolithiasis (HP:0000787)2.24035558
86Hypotension (HP:0002615)2.22418836
87Abnormality of alanine metabolism (HP:0010916)2.20848472
88Hyperalaninemia (HP:0003348)2.20848472
89Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.20848472
90Large for gestational age (HP:0001520)2.20362339
91Hyperkalemia (HP:0002153)2.19912277
92Vomiting (HP:0002013)2.18723671
93Inability to walk (HP:0002540)2.17840807
94Delayed epiphyseal ossification (HP:0002663)2.17793145
95Hypoproteinemia (HP:0003075)2.13283325
96Sclerocornea (HP:0000647)2.11415601
97Intestinal atresia (HP:0011100)2.10768955
98Neonatal onset (HP:0003623)2.08841408
99Abnormality of aspartate family amino acid metabolism (HP:0010899)2.08639845
100Absent speech (HP:0001344)2.07318040
101Vascular calcification (HP:0004934)2.06786622
102Hypophosphatemia (HP:0002148)2.04274512
103Renal tubular dysfunction (HP:0000124)2.03992544
104Absent rod-and cone-mediated responses on ERG (HP:0007688)2.03848497
105Metabolic acidosis (HP:0001942)2.01477019
106Progressive cerebellar ataxia (HP:0002073)2.01063447
107Abnormality of the pons (HP:0007361)2.00889992
108Increased CSF lactate (HP:0002490)1.99223908
109Broad-based gait (HP:0002136)1.98516334
110Tubular atrophy (HP:0000092)1.97768455
111Hyperglycinemia (HP:0002154)1.97190498
112Colon cancer (HP:0003003)1.96362986
113Delayed CNS myelination (HP:0002188)1.95709217
114Anencephaly (HP:0002323)1.95684403
115Hypoplasia of the fovea (HP:0007750)1.95171447
116Aplasia/Hypoplasia of the fovea (HP:0008060)1.95171447
117Generalized muscle weakness (HP:0003324)1.94841111
118Neoplasm of the adrenal cortex (HP:0100641)1.93675174
119Mitochondrial inheritance (HP:0001427)1.93255144
120Genital tract atresia (HP:0001827)1.92697840
121Furrowed tongue (HP:0000221)1.92286015
122Pachygyria (HP:0001302)1.91793801
123Widely spaced teeth (HP:0000687)1.91441872
124Abnormality of renal resorption (HP:0011038)1.91368794
125Hypothermia (HP:0002045)1.91303590
126Optic disc pallor (HP:0000543)1.91172525
127Enlarged kidneys (HP:0000105)1.91078610
128Hyperammonemia (HP:0001987)1.90929654
129Congenital hepatic fibrosis (HP:0002612)1.88707982
130Rickets (HP:0002748)1.88594024
131Fair hair (HP:0002286)1.88480446
132Thyroiditis (HP:0100646)1.87799009
133Postaxial foot polydactyly (HP:0001830)1.87489226
134Aplasia/hypoplasia of the uterus (HP:0008684)1.87274729
135Hypoplasia of the uterus (HP:0000013)1.85786601
136Aplasia/Hypoplasia of the tibia (HP:0005772)1.85656901
137Stomatitis (HP:0010280)1.85278014
138Chorioretinal atrophy (HP:0000533)1.84552623
139Vaginal atresia (HP:0000148)1.84441896
140Optic nerve hypoplasia (HP:0000609)1.84299839
141Lipid accumulation in hepatocytes (HP:0006561)1.84039949
142Vacuolated lymphocytes (HP:0001922)1.83629692
143Cardiovascular calcification (HP:0011915)1.83314448
144Abnormality of DNA repair (HP:0003254)1.83141031
145Febrile seizures (HP:0002373)1.83056306
146Abnormal respiratory epithelium morphology (HP:0012253)1.82873128
147Abnormal respiratory motile cilium morphology (HP:0005938)1.82873128
148Hypoplasia of the pons (HP:0012110)1.82814156
149Metaphyseal cupping (HP:0003021)1.80428794
150Bony spicule pigmentary retinopathy (HP:0007737)1.80365124
151Aplasia/Hypoplasia of the tongue (HP:0010295)1.79969487
152Increased hepatocellular lipid droplets (HP:0006565)1.78169126
153Dicarboxylic aciduria (HP:0003215)1.78047282
154Abnormality of dicarboxylic acid metabolism (HP:0010995)1.78047282
155Widely patent fontanelles and sutures (HP:0004492)1.77589426
156Congenital sensorineural hearing impairment (HP:0008527)1.75778989
157Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.75499335
1583-Methylglutaconic aciduria (HP:0003535)1.74994258
159Abnormal biliary tract physiology (HP:0012439)1.73803831
160Bile duct proliferation (HP:0001408)1.73803831
161Constricted visual fields (HP:0001133)1.73661984
162Protruding tongue (HP:0010808)1.73213222
163Congenital, generalized hypertrichosis (HP:0004540)1.72548813
164Abnormality of vitamin B metabolism (HP:0004340)1.72194086
165Cerebellar dysplasia (HP:0007033)1.71905471
166Abnormality of the fovea (HP:0000493)1.70612417
167Facial shape deformation (HP:0011334)1.68645751
168Potter facies (HP:0002009)1.68645751
169Abnormality of sulfur amino acid metabolism (HP:0004339)1.66994858
170Lethargy (HP:0001254)1.61145720
171Abnormality of aromatic amino acid family metabolism (HP:0004338)1.58617835
172Bilateral sensorineural hearing impairment (HP:0008619)1.55485576
173Abnormal enzyme/coenzyme activity (HP:0012379)1.51196877
174Bicornuate uterus (HP:0000813)1.50248669
175Malnutrition (HP:0004395)1.49733633
176Irritability (HP:0000737)1.49645457
177Confusion (HP:0001289)1.49190523
178Methylmalonic aciduria (HP:0012120)1.48190009
179Abnormality of alkaline phosphatase activity (HP:0004379)1.46650933
180Thin bony cortex (HP:0002753)1.42421184
181Lymphangioma (HP:0100764)1.40866134
182Chronic bronchitis (HP:0004469)1.34583821
183Nausea (HP:0002018)1.32062948
184Abnormal tarsal ossification (HP:0008369)1.29769910
185Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.28342921
186Tachypnea (HP:0002789)1.27895175
187Tinnitus (HP:0000360)1.26481567
188Spastic diplegia (HP:0001264)1.25316807
189Large eyes (HP:0001090)1.25272930
190Acute encephalopathy (HP:0006846)1.23937062

Predicted kinase interactions (KEA)

RankGene SetZ-score
1WNK39.63824371
2WNK48.34518966
3OXSR18.14243781
4FRK4.56421364
5STK394.45136287
6NUAK13.29871921
7MAP4K23.29350601
8ADRBK23.07644335
9TAOK32.84164481
10ZAK2.81267723
11BMPR1B2.28178512
12TLK12.27792629
13CASK2.08727252
14BCKDK2.08326868
15SGK2231.97970721
16SGK4941.97970721
17ACVR1B1.93806026
18WNK11.90406574
19CAMKK21.82143179
20TAF11.79990013
21STK38L1.63030027
22MAPK131.61032833
23MAP3K41.58351850
24SGK21.57842861
25TXK1.45866113
26TNIK1.44208241
27SGK31.39638501
28PDK31.38504466
29PDK41.38504466
30VRK21.37906131
31VRK11.32876367
32CCNB11.31577095
33TRIM281.29921539
34LMTK21.29537858
35NEK11.19102859
36PDK21.09305296
37MARK11.01105081
38DYRK20.97693283
39PHKG20.96107735
40PHKG10.96107735
41MST40.95674956
42MAP2K60.86305575
43MAP2K70.84326007
44MST1R0.83200827
45IRAK10.82203360
46STK380.79782526
47PIK3CA0.79398962
48PNCK0.79291099
49PLK20.76391043
50NTRK30.75692388
51LRRK20.74141662
52IKBKB0.72905976
53PRKCG0.72547890
54CAMK1D0.72327972
55CAMK1G0.70388841
56MAPK150.70366111
57TGFBR10.70175771
58TIE10.69670283
59NEK20.69424196
60GRK50.65277932
61MKNK20.64033100
62EPHB10.62472068
63FLT30.60610144
64STK30.60071550
65GRK60.58291884
66PLK30.58081198
67BRSK20.57695424
68KIT0.57454942
69PRKCQ0.56173971
70CAMK10.55239280
71GSK3A0.51950151
72SGK10.51219653
73TNK20.49263906
74FER0.48678436
75EIF2AK30.48409711
76PKN10.48311443
77PRKAA10.48293691
78PTK60.47725338
79CAMKK10.47557615
80GRK70.46378130
81TGFBR20.44979083
82SYK0.44918892
83MAPKAPK50.44341564
84MUSK0.43713079
85NLK0.42750815
86FGFR40.42697281
87LATS10.42174008
88PAK40.41059849
89TRIB30.40304397
90TEC0.40071567
91MAP3K30.39113692
92CAMK2A0.38750394
93MAPKAPK30.38216502
94MAP3K70.38017764
95ERN10.36972263
96PINK10.34228632
97DAPK20.33989108
98NTRK20.33311058
99IGF1R0.32987414
100PTK20.32959690
101MAP3K120.32621409
102ITK0.32584186
103PAK30.32036414
104DYRK1A0.30528097
105RPS6KA50.30047981
106CHUK0.28572956
107PLK40.27975924
108PRKG10.27827217
109PDPK10.26472716
110MAP3K20.26138876
111SIK20.26120578
112SIK10.25378610
113STK100.21688739
114DYRK1B0.21512601
115SIK30.21502709
116GRK10.19123562
117RIPK10.18956467
118PRKCI0.18494106
119PRKCH0.18269005
120MET0.18167570
121MAPK110.17005533
122PRKCD0.16425370
123PRKD20.16357661
124PRKAA20.16322952
125PTK2B0.15968848
126PRKCZ0.15505831
127PIK3CG0.15367823
128MYLK0.15104587
129ERBB30.14829043
130CSNK1A1L0.14653458
131PDK10.14311025
132ABL20.14027673
133NTRK10.13609250
134PRKACG0.12906528
135AKT20.12832699
136ROCK10.12406147
137INSRR0.11929992
138PRKG20.11815900
139BCR0.11391951
140PRKACA0.11234802
141CSNK1G10.10893340
142MAP2K30.10450233
143CSNK1G20.09682786
144CSNK1A10.09622006
145MINK10.09166250
146CAMK40.08662834
147PIM10.08198492
148STK110.07917399
149PRKCA0.07264306
150MARK30.07238612
151BMX0.06667945
152ADRBK10.06123135
153PRPF4B0.05715838
154ROCK20.05066584
155CSNK1G30.04462750
156CSK0.04406325
157MAP2K20.04317720
158PRKCE0.04079587
159MAP3K110.03963224
160BMPR20.03314513
161MAP4K10.02678272
162DAPK10.02088711
163MARK20.01700071
164PRKD10.01381063
165RPS6KA40.00870589
166INSR0.00687382
167SRC-0.0019327

Predicted pathways (KEGG)

RankGene SetZ-score
1Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049643.85155589
2Butanoate metabolism_Homo sapiens_hsa006503.45723089
3Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.35570256
4Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001303.20630245
5Valine, leucine and isoleucine degradation_Homo sapiens_hsa002803.20028750
6Phototransduction_Homo sapiens_hsa047443.10260141
7Cyanoamino acid metabolism_Homo sapiens_hsa004603.09034744
8Propanoate metabolism_Homo sapiens_hsa006403.05410421
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006303.04904551
102-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.92582104
11Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.92436085
12Collecting duct acid secretion_Homo sapiens_hsa049662.70657840
13Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.66563500
14Pentose and glucuronate interconversions_Homo sapiens_hsa000402.59540130
15Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.46642306
16Linoleic acid metabolism_Homo sapiens_hsa005912.44034587
17Fatty acid degradation_Homo sapiens_hsa000712.41161919
18Peroxisome_Homo sapiens_hsa041462.31784344
19Caffeine metabolism_Homo sapiens_hsa002322.28127859
20Pyruvate metabolism_Homo sapiens_hsa006202.26918973
21alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.18443986
22Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.15692958
23Sulfur metabolism_Homo sapiens_hsa009202.09462339
24Tryptophan metabolism_Homo sapiens_hsa003802.06218880
25Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.96913045
26Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.93068366
27Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.92173767
28Vitamin digestion and absorption_Homo sapiens_hsa049771.86099500
29Fanconi anemia pathway_Homo sapiens_hsa034601.78041419
30Bile secretion_Homo sapiens_hsa049761.76750487
31Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.75970913
32Homologous recombination_Homo sapiens_hsa034401.73861810
33Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.72781861
34beta-Alanine metabolism_Homo sapiens_hsa004101.72627069
35Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.71270785
36Ether lipid metabolism_Homo sapiens_hsa005651.70502826
37Fatty acid metabolism_Homo sapiens_hsa012121.70194322
38Nicotine addiction_Homo sapiens_hsa050331.69510770
39Basal transcription factors_Homo sapiens_hsa030221.65810909
40Carbon metabolism_Homo sapiens_hsa012001.64802691
41Protein export_Homo sapiens_hsa030601.57947185
42Glutathione metabolism_Homo sapiens_hsa004801.47461395
43Mineral absorption_Homo sapiens_hsa049781.46379068
44Intestinal immune network for IgA production_Homo sapiens_hsa046721.45527987
45Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.37034254
46Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.36289603
47Primary bile acid biosynthesis_Homo sapiens_hsa001201.32709470
48Taste transduction_Homo sapiens_hsa047421.28308215
49Protein digestion and absorption_Homo sapiens_hsa049741.28132667
50RNA polymerase_Homo sapiens_hsa030201.25909667
51Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.25675135
52Oxidative phosphorylation_Homo sapiens_hsa001901.24479552
53Arginine and proline metabolism_Homo sapiens_hsa003301.23482736
54Olfactory transduction_Homo sapiens_hsa047401.22654921
55Other glycan degradation_Homo sapiens_hsa005111.22602164
56Lysine degradation_Homo sapiens_hsa003101.19972516
57Regulation of autophagy_Homo sapiens_hsa041401.14551117
58Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.12261198
59Morphine addiction_Homo sapiens_hsa050321.11277646
60PPAR signaling pathway_Homo sapiens_hsa033201.11139868
61Arginine biosynthesis_Homo sapiens_hsa002201.06411454
62Biosynthesis of amino acids_Homo sapiens_hsa012300.99864224
63RNA degradation_Homo sapiens_hsa030180.98953393
64Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.98385792
65Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.97316430
66Folate biosynthesis_Homo sapiens_hsa007900.93013124
67Glycerolipid metabolism_Homo sapiens_hsa005610.92591669
68Phenylalanine metabolism_Homo sapiens_hsa003600.92048332
69Nitrogen metabolism_Homo sapiens_hsa009100.90910522
70Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.88179595
71One carbon pool by folate_Homo sapiens_hsa006700.87589142
72Histidine metabolism_Homo sapiens_hsa003400.87279558
73Serotonergic synapse_Homo sapiens_hsa047260.86757326
74Selenocompound metabolism_Homo sapiens_hsa004500.86645798
75Proteasome_Homo sapiens_hsa030500.86459591
76Type I diabetes mellitus_Homo sapiens_hsa049400.85342177
77Starch and sucrose metabolism_Homo sapiens_hsa005000.84724922
78Primary immunodeficiency_Homo sapiens_hsa053400.84426970
79Insulin secretion_Homo sapiens_hsa049110.84420329
80GABAergic synapse_Homo sapiens_hsa047270.83986728
81Asthma_Homo sapiens_hsa053100.83898894
82Ovarian steroidogenesis_Homo sapiens_hsa049130.82412693
83Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.80764823
84Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.76463701
85Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.76430341
86Circadian rhythm_Homo sapiens_hsa047100.75887581
87Parkinsons disease_Homo sapiens_hsa050120.74643877
88Gastric acid secretion_Homo sapiens_hsa049710.74520329
89Carbohydrate digestion and absorption_Homo sapiens_hsa049730.73535470
90Cysteine and methionine metabolism_Homo sapiens_hsa002700.72922409
91Thyroid hormone synthesis_Homo sapiens_hsa049180.72340142
92Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.72150188
93Fatty acid elongation_Homo sapiens_hsa000620.72044507
94Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.71518180
95Vibrio cholerae infection_Homo sapiens_hsa051100.71235236
96Glutamatergic synapse_Homo sapiens_hsa047240.66925953
97Purine metabolism_Homo sapiens_hsa002300.66634614
98Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.66060357
99Fructose and mannose metabolism_Homo sapiens_hsa000510.65138784
100Circadian entrainment_Homo sapiens_hsa047130.64841683
101Renin-angiotensin system_Homo sapiens_hsa046140.63233156
102Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.63055878
103Lysosome_Homo sapiens_hsa041420.61975456
104SNARE interactions in vesicular transport_Homo sapiens_hsa041300.57035466
105Allograft rejection_Homo sapiens_hsa053300.56864352
106Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.53808624
107Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.52370724
108Synaptic vesicle cycle_Homo sapiens_hsa047210.52234692
109Fat digestion and absorption_Homo sapiens_hsa049750.51988610
110Metabolic pathways_Homo sapiens_hsa011000.51532315
111Fatty acid biosynthesis_Homo sapiens_hsa000610.51257031
112Steroid hormone biosynthesis_Homo sapiens_hsa001400.50906869
113Pentose phosphate pathway_Homo sapiens_hsa000300.49440012
114Cardiac muscle contraction_Homo sapiens_hsa042600.49146583
115Chemical carcinogenesis_Homo sapiens_hsa052040.48967489
116Calcium signaling pathway_Homo sapiens_hsa040200.48459679
117Graft-versus-host disease_Homo sapiens_hsa053320.47931373
118Autoimmune thyroid disease_Homo sapiens_hsa053200.47486147
119Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.47344900
120Glycosaminoglycan degradation_Homo sapiens_hsa005310.47199223
121Alzheimers disease_Homo sapiens_hsa050100.45996296
122Maturity onset diabetes of the young_Homo sapiens_hsa049500.45671333
123Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.40482090
124Dopaminergic synapse_Homo sapiens_hsa047280.38120810
125ABC transporters_Homo sapiens_hsa020100.37248079
126Pyrimidine metabolism_Homo sapiens_hsa002400.37096955
127Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.37062525
128Nucleotide excision repair_Homo sapiens_hsa034200.36147710
129Tyrosine metabolism_Homo sapiens_hsa003500.32045866
130Huntingtons disease_Homo sapiens_hsa050160.27779525
131Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.26979715
132Drug metabolism - other enzymes_Homo sapiens_hsa009830.24518079
133Retinol metabolism_Homo sapiens_hsa008300.24480017
134Sulfur relay system_Homo sapiens_hsa041220.24241881
135Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.24130353
136Rheumatoid arthritis_Homo sapiens_hsa053230.22532658
137Arachidonic acid metabolism_Homo sapiens_hsa005900.19448246
138Choline metabolism in cancer_Homo sapiens_hsa052310.18549693
139Insulin resistance_Homo sapiens_hsa049310.14698446
140Inositol phosphate metabolism_Homo sapiens_hsa005620.09681204
141Adipocytokine signaling pathway_Homo sapiens_hsa049200.09466256
142Sphingolipid metabolism_Homo sapiens_hsa006000.09040042
143Leukocyte transendothelial migration_Homo sapiens_hsa046700.08422325
144Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.08221287
145Tight junction_Homo sapiens_hsa045300.08219623
146Steroid biosynthesis_Homo sapiens_hsa001000.05684756
147Hepatitis C_Homo sapiens_hsa051600.03437058
148Glucagon signaling pathway_Homo sapiens_hsa049220.02325999
149Pancreatic secretion_Homo sapiens_hsa049720.02251826
150Galactose metabolism_Homo sapiens_hsa000520.01599277
151AMPK signaling pathway_Homo sapiens_hsa04152-0.0221214
152Salivary secretion_Homo sapiens_hsa04970-0.0135833
153Bladder cancer_Homo sapiens_hsa05219-0.0043718

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