BEST4

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





Description: This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 4 gene is predominantly expressed in the colon. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1axoneme assembly (GO:0035082)7.68618817
2sperm capacitation (GO:0048240)6.56582829
3vitamin transmembrane transport (GO:0035461)6.10960525
4left/right pattern formation (GO:0060972)6.08672751
5ethanol metabolic process (GO:0006067)5.85844522
6regulation of cilium movement (GO:0003352)5.66254511
7primary alcohol catabolic process (GO:0034310)5.46358831
8ethanol oxidation (GO:0006069)5.15992510
9pyrimidine-containing compound transmembrane transport (GO:0072531)5.15616827
10oligosaccharide biosynthetic process (GO:0009312)4.91210360
11ventricular system development (GO:0021591)4.88693681
12sulfate transmembrane transport (GO:1902358)4.86041241
13negative regulation of T cell differentiation in thymus (GO:0033085)4.72774659
14centriole assembly (GO:0098534)4.68166149
15intraciliary transport (GO:0042073)4.56899939
16left/right axis specification (GO:0070986)4.51625626
17calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)4.47917502
18positive regulation of respiratory burst (GO:0060267)4.34579943
19O-glycan processing (GO:0016266)4.34515962
20microtubule bundle formation (GO:0001578)4.30858263
21one-carbon compound transport (GO:0019755)4.30813902
22cilium organization (GO:0044782)4.13964424
23diterpenoid biosynthetic process (GO:0016102)4.07585093
24sulfate transport (GO:0008272)4.06121165
25cilium assembly (GO:0042384)4.01619110
26phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)3.72993500
27excretion (GO:0007588)3.69180484
28exogenous drug catabolic process (GO:0042738)3.69058672
29regulation of germinal center formation (GO:0002634)3.68842484
30negative regulation of B cell mediated immunity (GO:0002713)3.68333346
31negative regulation of immunoglobulin mediated immune response (GO:0002890)3.68333346
32regulation of respiratory burst (GO:0060263)3.61099001
33sialylation (GO:0097503)3.59060794
34regulation of guanylate cyclase activity (GO:0031282)3.57995912
35bicarbonate transport (GO:0015701)3.48686261
36phosphatidylcholine biosynthetic process (GO:0006656)3.48038568
37diol metabolic process (GO:0034311)3.40296074
38glutathione biosynthetic process (GO:0006750)3.40248334
39glutathione derivative metabolic process (GO:1901685)3.33239156
40glutathione derivative biosynthetic process (GO:1901687)3.33239156
41nonribosomal peptide biosynthetic process (GO:0019184)3.30133541
42sphingomyelin metabolic process (GO:0006684)3.26342965
43positive regulation of synaptic transmission, GABAergic (GO:0032230)3.25994104
44tolerance induction (GO:0002507)3.24866254
45regulation of microtubule-based movement (GO:0060632)3.24415496
46multicellular organismal water homeostasis (GO:0050891)3.22289205
47lung epithelium development (GO:0060428)3.19264600
48sulfur compound transport (GO:0072348)3.17213202
49protein localization to cilium (GO:0061512)3.16430033
50primary alcohol metabolic process (GO:0034308)3.15745247
51cilium morphogenesis (GO:0060271)3.11106310
52drug catabolic process (GO:0042737)3.09362350
53cellular component assembly involved in morphogenesis (GO:0010927)3.07968208
54neurotransmitter biosynthetic process (GO:0042136)3.07860120
55flavonoid metabolic process (GO:0009812)3.06706613
56GDP-mannose metabolic process (GO:0019673)3.06035252
57sphingoid metabolic process (GO:0046519)2.99522037
58negative regulation of humoral immune response (GO:0002921)2.99521204
59glutathione metabolic process (GO:0006749)2.98841422
60microtubule-based movement (GO:0007018)2.98103502
61cell projection assembly (GO:0030031)2.97543505
62protein O-linked glycosylation (GO:0006493)2.94534772
63retinoic acid metabolic process (GO:0042573)2.91345924
64glomerular epithelial cell development (GO:0072310)2.90942435
65centriole replication (GO:0007099)2.89070289
66negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)2.87419151
67phosphatidylethanolamine biosynthetic process (GO:0006646)2.86664669
68terpenoid biosynthetic process (GO:0016114)2.86448760
69transepithelial transport (GO:0070633)2.85385496
70sphingosine metabolic process (GO:0006670)2.83081710
71glomerular filtration (GO:0003094)2.82732770
72sodium ion homeostasis (GO:0055078)2.82383612
73transcytosis (GO:0045056)2.82193822
74rRNA catabolic process (GO:0016075)2.82082520
75glycosylceramide metabolic process (GO:0006677)2.81950759
76hydrogen peroxide biosynthetic process (GO:0050665)2.80522140
77regulation of interleukin-5 production (GO:0032674)2.79278509
78carnitine metabolic process (GO:0009437)2.78676865
79phosphatidylethanolamine metabolic process (GO:0046337)2.72667461
80renal absorption (GO:0070293)2.72435551
81reactive oxygen species biosynthetic process (GO:1903409)2.71602105
82regulation of skeletal muscle contraction (GO:0014819)2.69940396
83water homeostasis (GO:0030104)2.69899967
84positive regulation of tolerance induction (GO:0002645)2.69144445
85superoxide anion generation (GO:0042554)2.67566803
86regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.67540408
87sperm motility (GO:0030317)2.66374450
88sulfur amino acid catabolic process (GO:0000098)2.64709212
89retinol metabolic process (GO:0042572)2.63635943
90establishment of apical/basal cell polarity (GO:0035089)2.61464030
91cytoplasmic microtubule organization (GO:0031122)2.61272962
92phenol-containing compound catabolic process (GO:0019336)2.56840766
93intestinal absorption (GO:0050892)2.56118320
943-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.54033430
95axonemal dynein complex assembly (GO:0070286)16.0601959
96cilium or flagellum-dependent cell motility (GO:0001539)13.8182293
97cilium movement (GO:0003341)11.2539706
98motile cilium assembly (GO:0044458)10.8597767
99epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)10.4747667
100epithelial cilium movement (GO:0003351)10.0495888

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.72626004
2CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human3.14772690
3FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human3.05286630
4CDX2_20551321_ChIP-Seq_CACO-2_Human3.04807883
5DROSHA_22980978_ChIP-Seq_HELA_Human2.86005005
6PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.80139808
7IRF8_22096565_ChIP-ChIP_GC-B_Human2.56980991
8CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.34929092
9ESR1_21235772_ChIP-Seq_MCF-7_Human2.23393063
10ESR2_21235772_ChIP-Seq_MCF-7_Human2.11141655
11P68_20966046_ChIP-Seq_HELA_Human2.03395267
12SOX2_27498859_Chip-Seq_STOMACH_Mouse2.00856562
13* E2F1_20622854_ChIP-Seq_HELA_Human2.00662714
14PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.99474144
15PHF8_20622854_ChIP-Seq_HELA_Human1.96422459
16STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.93273286
17ELF1_20517297_ChIP-Seq_JURKAT_Human1.91920924
18* SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.88170788
19BCOR_27268052_Chip-Seq_Bcells_Human1.87111653
20RUNX1_27514584_Chip-Seq_MCF-7_Human1.86738506
21* BCL6_27268052_Chip-Seq_Bcells_Human1.80251316
22P63_26484246_Chip-Seq_KERATINOCYTES_Human1.79533105
23CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.78032803
24STAT1_20625510_ChIP-Seq_HELA_Human1.76268388
25LXR_22292898_ChIP-Seq_THP-1_Human1.74633725
26SMC4_20622854_ChIP-Seq_HELA_Human1.70933887
27* CTCF_20526341_ChIP-Seq_ESCs_Human1.69601208
28IKZF1_21737484_ChIP-ChIP_HCT116_Human1.68993490
29GATA4_25053715_ChIP-Seq_YYC3_Human1.66449967
30TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.64426846
31* CTCF_27219007_Chip-Seq_Bcells_Human1.61737092
32EGR1_23403033_ChIP-Seq_LIVER_Mouse1.58475385
33P300_27268052_Chip-Seq_Bcells_Human1.58097335
34TP63_22573176_ChIP-Seq_HFKS_Human1.58020277
35ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.52816198
36TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.49472978
37IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.48191789
38* YY1_22570637_ChIP-Seq_MALME-3M_Human1.48189736
39CEBPB_22108803_ChIP-Seq_LS180_Human1.48037609
40FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.46647960
41SOX2_20726797_ChIP-Seq_SW620_Human1.44619908
42BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.43887852
43PPARA_22158963_ChIP-Seq_LIVER_Mouse1.43458584
44* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.42004966
45VDR_21846776_ChIP-Seq_THP-1_Human1.41679011
46SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.36268125
47* CREB1_26743006_Chip-Seq_LNCaP_Human1.35939031
48AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.34793111
49TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.34651857
50KLF5_25053715_ChIP-Seq_YYC3_Human1.34359874
51GATA6_25053715_ChIP-Seq_YYC3_Human1.34105375
52EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.33260285
53RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.32287765
54RARB_24833708_ChIP-Seq_LIVER_Mouse1.31676151
55RXR_22158963_ChIP-Seq_LIVER_Mouse1.30832244
56* NANOG_20526341_ChIP-Seq_ESCs_Human1.30225466
57* RACK7_27058665_Chip-Seq_MCF-7_Human1.29780076
58GATA1_19941826_ChIP-Seq_K562_Human1.29384702
59RAD21_21589869_ChIP-Seq_MESCs_Mouse1.27600511
60* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.26834377
61BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.22636757
62SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.21825046
63OCT4_20526341_ChIP-Seq_ESCs_Human1.20862556
64* SA1_27219007_Chip-Seq_Bcells_Human1.20727153
65SOX2_21211035_ChIP-Seq_LN229_Human1.19905730
66FOXO3_23340844_ChIP-Seq_DLD1_Human1.17745445
67FOXA1_25552417_ChIP-Seq_VCAP_Human1.15719647
68* SA1_27219007_Chip-Seq_ERYTHROID_Human1.14223524
69TAF2_19829295_ChIP-Seq_ESCs_Human1.14214281
70VDR_24763502_ChIP-Seq_THP-1_Human1.13795684
71MYC_19829295_ChIP-Seq_ESCs_Human1.13688406
72EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.13618229
73TDRD3_21172665_ChIP-Seq_MCF-7_Human1.13031059
74ERA_21632823_ChIP-Seq_H3396_Human1.12985511
75SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.12479085
76RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.12205090
77CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.11328841
78RARA_24833708_ChIP-Seq_LIVER_Mouse1.11285551
79ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.09824406
80VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.06196340
81* P53_21459846_ChIP-Seq_SAOS-2_Human1.04535393
82EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.03805903
83BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.01413084
84DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.00045530
85RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.99343874
86LXR_22158963_ChIP-Seq_LIVER_Mouse0.98400377
87P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.97339036
88PPAR_26484153_Chip-Seq_NCI-H1993_Human0.93824727
89RARG_19884340_ChIP-ChIP_MEFs_Mouse0.93125591
90RXRA_24833708_ChIP-Seq_LIVER_Mouse0.92534930
91SMRT_27268052_Chip-Seq_Bcells_Human0.91784213
92CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.91695946
93MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.91387037
94GATA3_21878914_ChIP-Seq_MCF-7_Human0.90929628
95CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.90367276
96EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.90164572
97PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.89124697
98GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.87615518
99NR3C1_21868756_ChIP-Seq_MCF10A_Human0.87419275
100PIAS1_25552417_ChIP-Seq_VCAP_Human0.87352595

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004043_abnormal_pH_regulation5.63576619
2MP0008875_abnormal_xenobiotic_pharmacok5.51526219
3MP0002653_abnormal_ependyma_morphology3.95275597
4MP0002139_abnormal_hepatobiliary_system3.86382816
5MP0002132_abnormal_respiratory_system3.37988689
6MP0005365_abnormal_bile_salt2.93946802
7MP0001765_abnormal_ion_homeostasis2.90726390
8MP0005085_abnormal_gallbladder_physiolo2.85344539
9MP0003136_yellow_coat_color2.73827781
10MP0010234_abnormal_vibrissa_follicle2.40843522
11MP0010155_abnormal_intestine_physiology2.38083065
12MP0005083_abnormal_biliary_tract2.32606235
13MP0003866_abnormal_defecation2.27087212
14MP0004147_increased_porphyrin_level2.19669307
15MP0002277_abnormal_respiratory_mucosa2.18823386
16MP0001664_abnormal_digestion2.11854638
17MP0000566_synostosis2.05109482
18MP0004019_abnormal_vitamin_homeostasis1.93187674
19MP0009379_abnormal_foot_pigmentation1.92069779
20MP0000383_abnormal_hair_follicle1.91539235
21MP0005636_abnormal_mineral_homeostasis1.86815528
22MP0002138_abnormal_hepatobiliary_system1.85796898
23MP0010678_abnormal_skin_adnexa1.76095969
24MP0005409_darkened_coat_color1.75733982
25MP0005310_abnormal_salivary_gland1.73385174
26MP0004264_abnormal_extraembryonic_tissu1.72990811
27MP0001663_abnormal_digestive_system1.72719049
28MP0001986_abnormal_taste_sensitivity1.72311348
29MP0009780_abnormal_chondrocyte_physiolo1.71317462
30MP0000490_abnormal_crypts_of1.65107193
31MP0008872_abnormal_physiological_respon1.62869721
32MP0002160_abnormal_reproductive_system1.60329825
33MP0005171_absent_coat_pigmentation1.59817994
34MP0009643_abnormal_urine_homeostasis1.56573807
35MP0003303_peritoneal_inflammation1.48419300
36MP0005174_abnormal_tail_pigmentation1.46576492
37MP0001188_hyperpigmentation1.46334234
38MP0000477_abnormal_intestine_morphology1.45006253
39MP0004133_heterotaxia1.44197048
40MP0002638_abnormal_pupillary_reflex1.42956255
41MP0002136_abnormal_kidney_physiology1.40659401
42MP0008789_abnormal_olfactory_epithelium1.36174738
43MP0000465_gastrointestinal_hemorrhage1.30070830
44MP0001873_stomach_inflammation1.28793235
45MP0001756_abnormal_urination1.28292151
46MP0002168_other_aberrant_phenotype1.25880016
47MP0003879_abnormal_hair_cell1.21066910
48MP0005381_digestive/alimentary_phenotyp1.16842153
49MP0003045_fibrosis1.16212530
50MP0001666_abnormal_nutrient_absorption1.13065158
51MP0002909_abnormal_adrenal_gland1.12294780
52MP0005387_immune_system_phenotype1.11999092
53MP0001790_abnormal_immune_system1.11999092
54MP0002098_abnormal_vibrissa_morphology1.11525907
55MP0000678_abnormal_parathyroid_gland1.10756359
56MP0001984_abnormal_olfaction1.10535761
57MP0005551_abnormal_eye_electrophysiolog1.08825974
58MP0005360_urolithiasis1.07496877
59MP0001764_abnormal_homeostasis1.06710455
60MP0003183_abnormal_peptide_metabolism1.04526491
61MP0005257_abnormal_intraocular_pressure1.04483945
62MP0006082_CNS_inflammation1.03996711
63MP0002876_abnormal_thyroid_physiology1.03055206
64MP0005377_hearing/vestibular/ear_phenot1.02025317
65MP0003878_abnormal_ear_physiology1.02025317
66MP0003806_abnormal_nucleotide_metabolis0.96649405
67MP0003252_abnormal_bile_duct0.93458936
68MP0001346_abnormal_lacrimal_gland0.92826634
69MP0005395_other_phenotype0.92374652
70MP0001835_abnormal_antigen_presentation0.91842796
71MP0003453_abnormal_keratinocyte_physiol0.88472712
72MP0005166_decreased_susceptibility_to0.82629116
73MP0001800_abnormal_humoral_immune0.78417563
74MP0005025_abnormal_response_to0.78105936
75MP0006036_abnormal_mitochondrial_physio0.76296504
76MP0002254_reproductive_system_inflammat0.75616094
77MP0005389_reproductive_system_phenotype0.74100759
78MP0005501_abnormal_skin_physiology0.73022824
79MP0002118_abnormal_lipid_homeostasis0.72419668
80MP0002282_abnormal_trachea_morphology0.71359673
81MP0000470_abnormal_stomach_morphology0.70628176
82MP0002148_abnormal_hypersensitivity_rea0.70569331
83MP0010329_abnormal_lipoprotein_level0.68259314
84MP0002735_abnormal_chemical_nociception0.68174495
85MP0009765_abnormal_xenobiotic_induced0.67579401
86MP0001502_abnormal_circadian_rhythm0.67560714
87MP0001845_abnormal_inflammatory_respons0.67520077
88MP0003868_abnormal_feces_composition0.66643519
89MP0005410_abnormal_fertilization0.66551338
90MP0005165_increased_susceptibility_to0.64931636
91MP0002452_abnormal_antigen_presenting0.64184840
92MP0000613_abnormal_salivary_gland0.61999077
93MP0005670_abnormal_white_adipose0.61733913
94MP0010352_gastrointestinal_tract_polyps0.61710838
95MP0000230_abnormal_systemic_arterial0.60570049
96MP0002249_abnormal_larynx_morphology0.59919108
97MP0002736_abnormal_nociception_after0.58872813
98MP0003698_abnormal_male_reproductive0.58716812
99MP0002822_catalepsy0.58568990
100MP0009384_cardiac_valve_regurgitation0.58174963

Predicted human phenotypes

RankGene SetZ-score
1Abnormal respiratory motile cilium morphology (HP:0005938)9.41721307
2Abnormal respiratory epithelium morphology (HP:0012253)9.41721307
3Absent/shortened dynein arms (HP:0200106)9.33232059
4Dynein arm defect of respiratory motile cilia (HP:0012255)9.33232059
5Abnormal respiratory motile cilium physiology (HP:0012261)9.04572665
6Abnormal ciliary motility (HP:0012262)8.89378167
7Rhinitis (HP:0012384)8.27371760
8Chronic bronchitis (HP:0004469)7.10594755
9Bronchiectasis (HP:0002110)6.46283422
10Hyperactive renin-angiotensin system (HP:0000841)5.96274777
11Nasal polyposis (HP:0100582)5.76978336
12Abnormality of the nasal mucosa (HP:0000433)5.06371670
13Decreased circulating renin level (HP:0003351)4.36189597
14Bronchitis (HP:0012387)4.19689593
15Recurrent sinusitis (HP:0011108)4.15142992
16Chronic sinusitis (HP:0011109)3.84545621
17Abnormality of renin-angiotensin system (HP:0000847)3.81253572
18Infertility (HP:0000789)3.69325038
19Abnormality of chloride homeostasis (HP:0011422)3.53456419
20Male infertility (HP:0003251)3.44496101
21Recurrent otitis media (HP:0000403)3.33153852
22Hyperaldosteronism (HP:0000859)3.30951126
23Dyschromatopsia (HP:0007641)3.05403286
24Metabolic alkalosis (HP:0200114)2.87242491
25Chronic otitis media (HP:0000389)2.86283879
26True hermaphroditism (HP:0010459)2.80689733
27Hyponatremia (HP:0002902)2.76463521
28Occipital encephalocele (HP:0002085)2.69049978
29Hyperkalemia (HP:0002153)2.66604723
30Pancreatic fibrosis (HP:0100732)2.62382662
31Flat acetabular roof (HP:0003180)2.58988324
32Atelectasis (HP:0100750)2.50380137
33Pancreatic cysts (HP:0001737)2.46414668
34Decreased central vision (HP:0007663)2.40251892
35Alkalosis (HP:0001948)2.37878523
36Cystic liver disease (HP:0006706)2.29089826
37Molar tooth sign on MRI (HP:0002419)2.26986500
38Abnormality of midbrain morphology (HP:0002418)2.26986500
39Renal salt wasting (HP:0000127)2.22226754
40Recurrent bronchitis (HP:0002837)2.19692294
41Tubulointerstitial nephritis (HP:0001970)2.19393586
42Nephronophthisis (HP:0000090)2.19075193
43Hemorrhage of the eye (HP:0011885)2.09003659
44Chronic hepatic failure (HP:0100626)2.06148158
45Popliteal pterygium (HP:0009756)2.02513703
46Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)2.00583566
47Respiratory insufficiency due to defective ciliary clearance (HP:0200073)10.4336073
48Abnormality of sodium homeostasis (HP:0010931)1.98746158
49Congenital hepatic fibrosis (HP:0002612)1.94503395
50Abnormality of the renal medulla (HP:0100957)1.91949362
51Flattened epiphyses (HP:0003071)1.91523885
52Postaxial foot polydactyly (HP:0001830)1.90135414
53Hypokalemia (HP:0002900)1.85051388
54Abnormality of potassium homeostasis (HP:0011042)1.83053949
55Cone-rod dystrophy (HP:0000548)1.80178859
56Attenuation of retinal blood vessels (HP:0007843)1.71233370
57Hypokalemic alkalosis (HP:0001949)1.70760390
58Fetal akinesia sequence (HP:0001989)1.67770891
59Adrenal overactivity (HP:0002717)1.64941320
60Medial flaring of the eyebrow (HP:0010747)1.64710241
61Congenital stationary night blindness (HP:0007642)1.64441399
62Testicular atrophy (HP:0000029)1.63711622
63Abnormality of monocarboxylic acid metabolism (HP:0010996)1.60028625
64Asplenia (HP:0001746)1.59198151
65Retinitis pigmentosa (HP:0000510)1.56914886
66Bell-shaped thorax (HP:0001591)1.56736046
67Short thorax (HP:0010306)1.55003645
68Tubular atrophy (HP:0000092)1.54750157
69Flat capital femoral epiphysis (HP:0003370)1.54057440
70Akinesia (HP:0002304)1.53703211
71Aplasia/Hypoplasia of the spleen (HP:0010451)1.52637117
72Aplasia/hypoplasia of the femur (HP:0005613)1.52557498
73Aplasia of the musculature (HP:0100854)1.50311980
74Short femoral neck (HP:0100864)1.49354344
75Male pseudohermaphroditism (HP:0000037)1.49275912
76Anencephaly (HP:0002323)1.47217701
77Dehydration (HP:0001944)1.45129889
78Hypoalbuminemia (HP:0003073)1.41732855
79Abnormal albumin level (HP:0012116)1.41732855
80Central scotoma (HP:0000603)1.40428409
81Congenital primary aphakia (HP:0007707)1.39713497
82Macular degeneration (HP:0000608)1.38272012
83Abnormality of the renal cortex (HP:0011035)1.36622398
84Nephropathy (HP:0000112)1.35812003
85Pili torti (HP:0003777)1.34230913
86Nephrogenic diabetes insipidus (HP:0009806)1.32552538
87Gait imbalance (HP:0002141)1.31938535
88Malnutrition (HP:0004395)1.30110313
89Aplasia/Hypoplasia of the tongue (HP:0010295)1.30021653
90Abnormal biliary tract physiology (HP:0012439)1.29283828
91Bile duct proliferation (HP:0001408)1.29283828
92Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.28149814
93Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.26443707
94Spinal cord compression (HP:0002176)1.25561974
95Rib fusion (HP:0000902)1.25315113
96Hip dysplasia (HP:0001385)1.22691890
97Bony spicule pigmentary retinopathy (HP:0007737)1.21457047
98Ileus (HP:0002595)1.19501930
99Tubulointerstitial abnormality (HP:0001969)1.15333233
100Abnormal vertebral ossification (HP:0100569)1.14809476

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA25.30561311
2MST43.83964611
3ACVR1B3.53484100
4MST1R2.22730318
5PIK3CA2.19900576
6WNK42.09519491
7MAPK1511.3780518
8LATS11.83999632
9LMTK21.80586211
10CCNB11.75334729
11SMG11.46585243
12RIPK11.37987245
13CSK1.37329760
14ERN11.35795067
15MAPKAPK31.25695478
16NME11.24769582
17MAP3K21.19688038
18MATK1.07590980
19TLK11.06978942
20GRK61.03476703
21TBK11.01872983
22STK38L1.01693804
23CAMKK21.00543461
24PINK10.99315497
25INSRR0.93988704
26MAP3K30.92570502
27MUSK0.92485596
28PDPK10.91814473
29STK390.89291751
30STK240.86892445
31DYRK1B0.82260912
32MAP4K20.81835495
33BLK0.81655612
34EPHA40.80157416
35NEK60.78706746
36NEK20.77822303
37MAP3K110.77266022
38FRK0.76668292
39PRKAA20.76166576
40OXSR10.75687813
41ADRBK10.74446662
42TAOK10.74252922
43ERBB20.72922862
44TTK0.70945931
45CAMKK10.70265571
46STK380.68492820
47ADRBK20.64736341
48PTK2B0.61153980
49MAP3K100.61093173
50RIPK40.60829881
51MAP2K20.59004349
52MAP4K10.56938084
53MAP3K120.56886119
54IKBKE0.56846872
55GRK10.53994673
56LRRK20.53190153
57PRKCI0.51710905
58PRKCQ0.50402383
59ZAP700.49542799
60PRKCD0.47900543
61MAP2K60.43578483
62BCKDK0.41924858
63JAK30.41384739
64BMX0.39838709
65PRKCA0.39719496
66LYN0.39427268
67EPHB20.39077727
68MET0.39064384
69MAP2K10.38365592
70NUAK10.37329932
71MELK0.37262093
72BMPR1B0.34584308
73PIM20.33770221
74KIT0.31719364
75CDK190.29434111
76EPHA30.28885138
77IKBKB0.28486372
78NLK0.28481964
79STK100.28195102
80MAPK110.27998106
81SYK0.27338554
82CHUK0.27213634
83MAP3K50.24250729
84RPS6KB10.23611528
85PTK60.23290712
86PRKACA0.22386719
87SRC0.22205298
88CAMK2G0.21006568
89MAP3K70.20639728
90MAP3K10.20506804
91PRKD30.20315747
92FYN0.20161584
93ZAK0.19829493
94PDK10.18818682
95MAP3K40.16152623
96CSNK1A10.15834886
97PRKAA10.15815260
98PRKG20.14552149
99CSF1R0.13852099
100ROCK10.13231606

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009104.44160875
2Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006013.60972807
3Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009803.58563473
4Histidine metabolism_Homo sapiens_hsa003403.40418547
5Chemical carcinogenesis_Homo sapiens_hsa052043.12001888
6Drug metabolism - cytochrome P450_Homo sapiens_hsa009823.11890618
7Sulfur metabolism_Homo sapiens_hsa009202.53279836
8Phenylalanine metabolism_Homo sapiens_hsa003602.52542137
9Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.51703417
10Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.31674264
11Caffeine metabolism_Homo sapiens_hsa002322.30876791
12Cyanoamino acid metabolism_Homo sapiens_hsa004602.30800877
13Sphingolipid metabolism_Homo sapiens_hsa006002.25283619
14Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005122.15168408
15Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.09530710
16Tyrosine metabolism_Homo sapiens_hsa003502.07331239
17Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.05080710
18Retinol metabolism_Homo sapiens_hsa008302.03051150
19Glutathione metabolism_Homo sapiens_hsa004801.83133543
20Fatty acid degradation_Homo sapiens_hsa000711.82699740
21Steroid hormone biosynthesis_Homo sapiens_hsa001401.73135192
22Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.68128373
23Mineral absorption_Homo sapiens_hsa049781.59151076
24Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.47627233
25Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.47224635
26Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.39583120
27beta-Alanine metabolism_Homo sapiens_hsa004101.38453702
28Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.38252966
29Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.34590972
30Tryptophan metabolism_Homo sapiens_hsa003801.32406725
31Drug metabolism - other enzymes_Homo sapiens_hsa009831.32226854
32Pentose and glucuronate interconversions_Homo sapiens_hsa000401.31697766
33Linoleic acid metabolism_Homo sapiens_hsa005911.24621229
34Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.20747165
35Intestinal immune network for IgA production_Homo sapiens_hsa046721.14033465
36Peroxisome_Homo sapiens_hsa041461.09227284
37Huntingtons disease_Homo sapiens_hsa050161.08635228
38Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.98891103
39Fructose and mannose metabolism_Homo sapiens_hsa000510.97447617
40PPAR signaling pathway_Homo sapiens_hsa033200.95802582
41Fat digestion and absorption_Homo sapiens_hsa049750.91302580
42Other glycan degradation_Homo sapiens_hsa005110.91128124
43Starch and sucrose metabolism_Homo sapiens_hsa005000.89884078
44Vitamin digestion and absorption_Homo sapiens_hsa049770.89799541
45Maturity onset diabetes of the young_Homo sapiens_hsa049500.87835441
46Glycerolipid metabolism_Homo sapiens_hsa005610.85307009
47Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.84971961
48ABC transporters_Homo sapiens_hsa020100.83265654
49Bile secretion_Homo sapiens_hsa049760.81837301
50Taste transduction_Homo sapiens_hsa047420.77973440
51Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.77027908
52Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.76965553
53Pyruvate metabolism_Homo sapiens_hsa006200.74541206
54Sulfur relay system_Homo sapiens_hsa041220.73717677
55Arachidonic acid metabolism_Homo sapiens_hsa005900.72319205
56Pancreatic secretion_Homo sapiens_hsa049720.72276856
57Arginine and proline metabolism_Homo sapiens_hsa003300.71793344
58Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.70587624
59Allograft rejection_Homo sapiens_hsa053300.69137908
60Phototransduction_Homo sapiens_hsa047440.68099075
61Butanoate metabolism_Homo sapiens_hsa006500.67779469
62Hematopoietic cell lineage_Homo sapiens_hsa046400.67506095
63alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.64910615
64Asthma_Homo sapiens_hsa053100.64744921
65Tight junction_Homo sapiens_hsa045300.63853902
66Glycosaminoglycan degradation_Homo sapiens_hsa005310.60961137
67Glycerophospholipid metabolism_Homo sapiens_hsa005640.59035859
68Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.58555944
69Carbohydrate digestion and absorption_Homo sapiens_hsa049730.57801349
70Autoimmune thyroid disease_Homo sapiens_hsa053200.57634151
71Leukocyte transendothelial migration_Homo sapiens_hsa046700.53967269
72Graft-versus-host disease_Homo sapiens_hsa053320.53316259
73Primary bile acid biosynthesis_Homo sapiens_hsa001200.52515439
74Hepatitis C_Homo sapiens_hsa051600.52333722
75Metabolic pathways_Homo sapiens_hsa011000.50194009
76Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.42806988
77Renin-angiotensin system_Homo sapiens_hsa046140.41953070
78Type I diabetes mellitus_Homo sapiens_hsa049400.41348616
79Salivary secretion_Homo sapiens_hsa049700.40362229
80Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.40324289
812-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.37926107
82Arginine biosynthesis_Homo sapiens_hsa002200.37758195
83Lysosome_Homo sapiens_hsa041420.37038453
84N-Glycan biosynthesis_Homo sapiens_hsa005100.36742072
85Primary immunodeficiency_Homo sapiens_hsa053400.33749661
86Circadian rhythm_Homo sapiens_hsa047100.28853517
87Ovarian steroidogenesis_Homo sapiens_hsa049130.26945279
88Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.25657375
89Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.24659451
90RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.24518693
91Collecting duct acid secretion_Homo sapiens_hsa049660.21531072
92Calcium signaling pathway_Homo sapiens_hsa040200.20945266
93Transcriptional misregulation in cancer_Homo sapiens_hsa052020.17187411
94Ether lipid metabolism_Homo sapiens_hsa005650.16672331
95Hedgehog signaling pathway_Homo sapiens_hsa043400.16463472
96Fatty acid metabolism_Homo sapiens_hsa012120.13769470
97Selenocompound metabolism_Homo sapiens_hsa004500.12248628
98Propanoate metabolism_Homo sapiens_hsa006400.12069235
99Notch signaling pathway_Homo sapiens_hsa043300.10654463
100Galactose metabolism_Homo sapiens_hsa000520.07974519

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