BEST2

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 2 gene is mainly expressed in the retinal pigment epithelium and colon. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1pyrimidine-containing compound transmembrane transport (GO:0072531)8.14443553
2DNA damage induced protein phosphorylation (GO:0006975)8.06282228
3regulation of histone phosphorylation (GO:0033127)6.58795176
4morphogenesis of an epithelial fold (GO:0060571)6.31895975
5artery development (GO:0060840)6.19805364
6intestinal epithelial cell development (GO:0060576)5.79454266
7mitotic metaphase plate congression (GO:0007080)5.52411528
8behavioral response to nicotine (GO:0035095)5.35937808
9bile acid and bile salt transport (GO:0015721)5.11029777
10sulfate transmembrane transport (GO:1902358)5.06707658
11piRNA metabolic process (GO:0034587)5.04998951
12regulation of cytokine production involved in inflammatory response (GO:1900015)5.03818415
13sulfur compound transport (GO:0072348)4.96940988
14regulation of attachment of spindle microtubules to kinetochore (GO:0051988)4.89562281
15ubiquinone biosynthetic process (GO:0006744)4.75525170
16quinone biosynthetic process (GO:1901663)4.75525170
17sulfate transport (GO:0008272)4.70932623
18bundle of His cell to Purkinje myocyte communication (GO:0086069)4.70219286
19regulation of exit from mitosis (GO:0007096)4.68381970
20determination of adult lifespan (GO:0008340)4.68326335
21mitotic chromosome condensation (GO:0007076)4.50142838
22protein K6-linked ubiquitination (GO:0085020)4.42681629
23DNA deamination (GO:0045006)4.37332162
24regulation of spindle organization (GO:0090224)4.33867465
25negative regulation of telomerase activity (GO:0051974)4.32371261
26regulation of early endosome to late endosome transport (GO:2000641)4.30555362
27mannosylation (GO:0097502)4.22835758
28UDP-N-acetylglucosamine metabolic process (GO:0006047)4.18387746
29negative regulation of keratinocyte proliferation (GO:0010839)4.17874717
30ubiquinone metabolic process (GO:0006743)4.13677401
31vitamin transport (GO:0051180)4.12456265
32platelet dense granule organization (GO:0060155)4.08586927
33metaphase plate congression (GO:0051310)4.02234664
34negative regulation of hormone metabolic process (GO:0032351)3.97441441
35negative regulation of hormone biosynthetic process (GO:0032353)3.97441441
36oocyte maturation (GO:0001556)3.93376891
37cell wall macromolecule metabolic process (GO:0044036)3.93355856
38peptidyl-tyrosine autophosphorylation (GO:0038083)3.92473450
39ribosome assembly (GO:0042255)3.90193572
40regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.81744172
41regulation of mitotic spindle organization (GO:0060236)3.78279691
42diol metabolic process (GO:0034311)3.70741633
43hemidesmosome assembly (GO:0031581)3.68667221
44sphingosine metabolic process (GO:0006670)3.66523906
45fucose catabolic process (GO:0019317)3.62550720
46L-fucose metabolic process (GO:0042354)3.62550720
47L-fucose catabolic process (GO:0042355)3.62550720
48histone H2A monoubiquitination (GO:0035518)3.61651248
49axoneme assembly (GO:0035082)3.61598761
50positive regulation of epidermal cell differentiation (GO:0045606)3.60601962
51neural tube formation (GO:0001841)3.59713249
52indole-containing compound catabolic process (GO:0042436)3.59202098
53indolalkylamine catabolic process (GO:0046218)3.59202098
54tryptophan catabolic process (GO:0006569)3.59202098
55response to pheromone (GO:0019236)3.57443517
56production of molecular mediator involved in inflammatory response (GO:0002532)3.55603302
57regulation of glucocorticoid metabolic process (GO:0031943)3.54963206
58maintenance of gastrointestinal epithelium (GO:0030277)3.53847332
59regulation of meiosis (GO:0040020)3.50320633
60regulation of telomerase activity (GO:0051972)3.49538306
61macrophage chemotaxis (GO:0048246)3.48028278
62mitotic sister chromatid segregation (GO:0000070)3.47574359
63regulation of female gonad development (GO:2000194)3.46913845
64negative regulation of meiosis (GO:0045835)3.45432720
65positive regulation of interleukin-1 secretion (GO:0050716)3.45042232
66ventricular septum development (GO:0003281)3.42281846
67detection of light stimulus involved in sensory perception (GO:0050962)3.41856700
68detection of light stimulus involved in visual perception (GO:0050908)3.41856700
69kynurenine metabolic process (GO:0070189)3.41460862
70indolalkylamine metabolic process (GO:0006586)3.38905821
71cytidine deamination (GO:0009972)3.37814963
72cytidine metabolic process (GO:0046087)3.37814963
73cytidine catabolic process (GO:0006216)3.37814963
74negative regulation of retinoic acid receptor signaling pathway (GO:0048387)3.35509419
75azole transport (GO:0045117)3.35279124
76purinergic nucleotide receptor signaling pathway (GO:0035590)3.33840352
77negative regulation of protein tyrosine kinase activity (GO:0061099)3.24372449
78histone H2A ubiquitination (GO:0033522)3.22892742
79positive regulation of Cdc42 GTPase activity (GO:0043089)3.22586768
80regulation of guanylate cyclase activity (GO:0031282)3.21002539
81negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)3.20613263
82base-excision repair, AP site formation (GO:0006285)3.19265533
83phosphatidylcholine biosynthetic process (GO:0006656)3.18090499
84maturation of 5.8S rRNA (GO:0000460)3.17705497
85regulation of protein glycosylation (GO:0060049)3.16190092
86iron-sulfur cluster assembly (GO:0016226)3.15672791
87metallo-sulfur cluster assembly (GO:0031163)3.15672791
88regulation of sister chromatid cohesion (GO:0007063)3.15583156
89cellular biogenic amine catabolic process (GO:0042402)3.14779078
90amine catabolic process (GO:0009310)3.14779078
91bicarbonate transport (GO:0015701)3.13137175
92establishment of chromosome localization (GO:0051303)3.13026031
93DNA replication checkpoint (GO:0000076)3.12907909
94inner cell mass cell proliferation (GO:0001833)3.06704819
95synaptonemal complex assembly (GO:0007130)3.04241681
96respiratory chain complex IV assembly (GO:0008535)3.03778741
97regulation of meiosis I (GO:0060631)3.03197065
98protein neddylation (GO:0045116)3.01173287
99pyrimidine ribonucleoside catabolic process (GO:0046133)3.00303928
100lung-associated mesenchyme development (GO:0060484)3.00068846
101regulation of rhodopsin mediated signaling pathway (GO:0022400)3.00067296
102tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.98420244
103RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.98420244
104dopamine transport (GO:0015872)2.98389194
105positive regulation of chromosome segregation (GO:0051984)2.98359078
106positive regulation of guanylate cyclase activity (GO:0031284)2.97928851
107ventricular cardiac muscle cell action potential (GO:0086005)2.97920420
108preassembly of GPI anchor in ER membrane (GO:0016254)2.97371901
109purine nucleobase biosynthetic process (GO:0009113)2.96033426
110sphingoid metabolic process (GO:0046519)2.95532603
111homocysteine metabolic process (GO:0050667)2.95405174
112transcription initiation from RNA polymerase I promoter (GO:0006361)2.95166015
113regulation of keratinocyte differentiation (GO:0045616)2.93115746
114cellular response to ATP (GO:0071318)2.92616486
115regulation of cilium movement (GO:0003352)2.91461073
116notochord development (GO:0030903)2.90438718
117photoreceptor cell maintenance (GO:0045494)2.89255060
118epithelial structure maintenance (GO:0010669)2.88934609
119female gamete generation (GO:0007292)2.88575507
120positive regulation of keratinocyte differentiation (GO:0045618)2.87125895
121transepithelial transport (GO:0070633)2.86751222
122rhodopsin mediated signaling pathway (GO:0016056)2.86734765
123regulation of keratinocyte proliferation (GO:0010837)2.86350618
124regulation of interleukin-1 secretion (GO:0050704)2.85904805
125cornea development in camera-type eye (GO:0061303)2.85506326
126cytochrome complex assembly (GO:0017004)2.83936379
127nucleotide transmembrane transport (GO:1901679)2.83180006
128negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)2.82736096
129dolichol-linked oligosaccharide biosynthetic process (GO:0006488)2.82669341
130regulation of bile acid biosynthetic process (GO:0070857)2.81943697
131transcription from RNA polymerase I promoter (GO:0006360)2.81423213
132cell wall macromolecule catabolic process (GO:0016998)2.80763540
133detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.79939522
134DNA methylation involved in gamete generation (GO:0043046)2.79803544
135protein complex biogenesis (GO:0070271)2.79701236
136tryptophan metabolic process (GO:0006568)2.77896136
137protein localization to kinetochore (GO:0034501)2.77572446
138single strand break repair (GO:0000012)2.75222960
139attachment of spindle microtubules to kinetochore (GO:0008608)2.75122141
140cellular ketone body metabolic process (GO:0046950)2.73399777
141L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.73382670
142citrulline biosynthetic process (GO:0019240)2.72723426
143protein localization to chromosome, centromeric region (GO:0071459)2.71109094
144vitamin A metabolic process (GO:0006776)2.70799634
145photoreceptor cell development (GO:0042461)2.70325341
146GPI anchor metabolic process (GO:0006505)2.69581807
147behavioral response to ethanol (GO:0048149)2.68854010
148mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.68589559
149mitochondrial respiratory chain complex I assembly (GO:0032981)2.68589559
150NADH dehydrogenase complex assembly (GO:0010257)2.68589559
151meiotic cell cycle (GO:0051321)2.67916037
152phosphatidylinositol acyl-chain remodeling (GO:0036149)2.66610039
153regulation of meiotic cell cycle (GO:0051445)2.66578302
154cilium or flagellum-dependent cell motility (GO:0001539)2.65518936
155phosphatidylserine acyl-chain remodeling (GO:0036150)2.63854638
156positive regulation of epidermis development (GO:0045684)2.63751026
157epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.63501446
158sister chromatid segregation (GO:0000819)2.63025311
159synaptonemal complex organization (GO:0070193)2.62973085
160cellular response to nitric oxide (GO:0071732)2.62246609
161positive regulation of interleukin-1 production (GO:0032732)2.62223159
162arginine catabolic process (GO:0006527)2.57255775
163multicellular organism reproduction (GO:0032504)2.56037356
164GDP-mannose metabolic process (GO:0019673)2.55810383
165nonmotile primary cilium assembly (GO:0035058)2.55750262
166ketone body metabolic process (GO:1902224)2.54377260
167peptidyl-histidine modification (GO:0018202)2.52875599
168protein polyglutamylation (GO:0018095)2.52541394
169epithelial cilium movement (GO:0003351)2.50935458
170regulation of skeletal muscle contraction (GO:0014819)2.47366193
171mitochondrial respiratory chain complex assembly (GO:0033108)2.45099707
172termination of RNA polymerase III transcription (GO:0006386)2.43543397
173transcription elongation from RNA polymerase III promoter (GO:0006385)2.43543397
174neuronal action potential propagation (GO:0019227)2.42894207
175sperm motility (GO:0030317)2.41482251
176regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.41039858
177synaptic transmission, cholinergic (GO:0007271)2.40416304
178protein localization to cilium (GO:0061512)2.40203234
179regulation of acrosome reaction (GO:0060046)2.38686467
1803-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.38668292
181purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.38668292
182GPI anchor biosynthetic process (GO:0006506)2.38661591
183estrogen biosynthetic process (GO:0006703)2.38495315
184visual perception (GO:0007601)2.37777298
185sensory perception of light stimulus (GO:0050953)2.37713316
186cilium morphogenesis (GO:0060271)2.36861985
187interferon-gamma production (GO:0032609)2.35986036
188eye photoreceptor cell development (GO:0042462)2.35826241
189positive regulation of defense response to virus by host (GO:0002230)2.33884796
190sulfation (GO:0051923)2.33830071
191vitamin transmembrane transport (GO:0035461)11.8261807

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human5.67489088
2AR_21909140_ChIP-Seq_LNCAP_Human4.26654528
3E2F7_22180533_ChIP-Seq_HELA_Human4.11643146
4CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.91293440
5ZNF274_21170338_ChIP-Seq_K562_Hela3.78297821
6FOXM1_23109430_ChIP-Seq_U2OS_Human3.71801843
7KAP1_22055183_ChIP-Seq_ESCs_Mouse3.17178722
8RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.99027723
9NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.93308509
10TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.91868633
11IGF1R_20145208_ChIP-Seq_DFB_Human2.88932719
12EZH2_22144423_ChIP-Seq_EOC_Human2.84338302
13STAT6_21828071_ChIP-Seq_BEAS2B_Human2.68521701
14FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.57823952
15E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.50170360
16ZIC3_20872845_ChIP-ChIP_MESCs_Mouse2.45414122
17GBX2_23144817_ChIP-Seq_PC3_Human2.16576306
18MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.00444145
19POU3F2_20337985_ChIP-ChIP_501MEL_Human1.97159873
20HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.95600759
21ZFP57_27257070_Chip-Seq_ESCs_Mouse1.94884106
22PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.94779218
23MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.93732313
24KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.91081766
25KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.91081766
26KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.91081766
27EGR1_23403033_ChIP-Seq_LIVER_Mouse1.90556915
28NANOG_18555785_ChIP-Seq_MESCs_Mouse1.88984009
29EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.87337430
30CTBP1_25329375_ChIP-Seq_LNCAP_Human1.87079048
31HTT_18923047_ChIP-ChIP_STHdh_Human1.84504775
32GATA6_25053715_ChIP-Seq_YYC3_Human1.84393131
33GATA1_26923725_Chip-Seq_HPCs_Mouse1.81855134
34NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.81633075
35TP53_22573176_ChIP-Seq_HFKS_Human1.78035382
36GABP_17652178_ChIP-ChIP_JURKAT_Human1.77403615
37ER_23166858_ChIP-Seq_MCF-7_Human1.76033852
38EWS_26573619_Chip-Seq_HEK293_Human1.71523722
39KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.71507706
40CTBP2_25329375_ChIP-Seq_LNCAP_Human1.71485238
41KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.70498071
42POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.69912050
43FUS_26573619_Chip-Seq_HEK293_Human1.69760481
44KAP1_27257070_Chip-Seq_ESCs_Mouse1.68570180
45P300_19829295_ChIP-Seq_ESCs_Human1.64828364
46BCAT_22108803_ChIP-Seq_LS180_Human1.62959947
47NOTCH1_21737748_ChIP-Seq_TLL_Human1.62693366
48ZNF263_19887448_ChIP-Seq_K562_Human1.59764735
49PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.58560319
50GATA3_21878914_ChIP-Seq_MCF-7_Human1.58241889
51NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.57914163
52TAF15_26573619_Chip-Seq_HEK293_Human1.55875430
53SOX2_27498859_Chip-Seq_STOMACH_Mouse1.55420866
54ESR2_21235772_ChIP-Seq_MCF-7_Human1.54822174
55LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.50258905
56NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.47977444
57IRF1_19129219_ChIP-ChIP_H3396_Human1.47833023
58NANOG_18692474_ChIP-Seq_MESCs_Mouse1.47167382
59MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.44398068
60GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.42171634
61TCF3_18692474_ChIP-Seq_MESCs_Mouse1.41815465
62NCOR_22424771_ChIP-Seq_293T_Human1.41804449
63NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.41798236
64GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.39777290
65SOX2_20726797_ChIP-Seq_SW620_Human1.39676108
66UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.37501892
67* NANOG_20526341_ChIP-Seq_ESCs_Human1.37475861
68KLF5_25053715_ChIP-Seq_YYC3_Human1.35831265
69FLI1_27457419_Chip-Seq_LIVER_Mouse1.35827967
70AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.35610829
71* IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.35363879
72* CBP_20019798_ChIP-Seq_JUKART_Human1.35363879
73* FOXA1_25329375_ChIP-Seq_VCAP_Human1.34745967
74* FOXA1_27270436_Chip-Seq_PROSTATE_Human1.34745967
75SOX2_19829295_ChIP-Seq_ESCs_Human1.34093412
76NANOG_19829295_ChIP-Seq_ESCs_Human1.34093412
77EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.33978077
78NANOG_21062744_ChIP-ChIP_HESCs_Human1.33897827
79RUNX1_27514584_Chip-Seq_MCF-7_Human1.33738643
80SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.33411676
81NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.33209195
82SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.32971791
83PCGF2_27294783_Chip-Seq_NPCs_Mouse1.32376936
84AR_20517297_ChIP-Seq_VCAP_Human1.31007595
85BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.30797440
86KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.30487434
87TCF3_18692474_ChIP-Seq_MEFs_Mouse1.30432772
88VDR_22108803_ChIP-Seq_LS180_Human1.29706853
89GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.29290555
90KLF5_20875108_ChIP-Seq_MESCs_Mouse1.29174546
91* CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.28990293
92NANOG_18692474_ChIP-Seq_MEFs_Mouse1.28820771
93EST1_17652178_ChIP-ChIP_JURKAT_Human1.28268902
94PCGF2_27294783_Chip-Seq_ESCs_Mouse1.27627928
95PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.27354995
96NR3C1_21868756_ChIP-Seq_MCF10A_Human1.26067625
97FOXA1_21572438_ChIP-Seq_LNCaP_Human1.25521674
98MYC_19829295_ChIP-Seq_ESCs_Human1.24299618
99SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.24175754
100ATF3_27146783_Chip-Seq_COLON_Human1.23936679
101P53_21459846_ChIP-Seq_SAOS-2_Human1.23009340
102HOXB7_26014856_ChIP-Seq_BT474_Human1.22219234
103* SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.21425956
104* ETV2_25802403_ChIP-Seq_MESCs_Mouse1.20692843
105MYC_18940864_ChIP-ChIP_HL60_Human1.19440568
106RACK7_27058665_Chip-Seq_MCF-7_Human1.19327222
107GATA6_21074721_ChIP-Seq_CACO-2_Human1.19146542
108TCF4_22108803_ChIP-Seq_LS180_Human1.18651621
109ERA_21632823_ChIP-Seq_H3396_Human1.18534968
110EZH2_27294783_Chip-Seq_NPCs_Mouse1.18226653
111STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.17983250
112CDX2_22108803_ChIP-Seq_LS180_Human1.17391996
113KLF4_18555785_ChIP-Seq_MESCs_Mouse1.17030399
114POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.16020984
115GATA4_25053715_ChIP-Seq_YYC3_Human1.15931184
116AR_25329375_ChIP-Seq_VCAP_Human1.15584828
117* AUTS2_25519132_ChIP-Seq_293T-REX_Human1.15531404
118STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.15252372
119SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.14697626
120TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.14355169
121SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.13831233
122TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human1.13458570
123FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.12705436
124SALL1_21062744_ChIP-ChIP_HESCs_Human1.12577039
125* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.12506685
126NFE2_27457419_Chip-Seq_LIVER_Mouse1.12492773
127VDR_23849224_ChIP-Seq_CD4+_Human1.12378223
128CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.12192529
129IRF8_21731497_ChIP-ChIP_J774_Mouse1.11925309
130PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.11402067
131SMAD4_21799915_ChIP-Seq_A2780_Human1.11187140
132FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.11183841
133STAT3_23295773_ChIP-Seq_U87_Human1.09971535
134POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.09522021
135HNFA_21074721_ChIP-Seq_CACO-2_Human1.08512836
136IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.08342593
137STAT3_1855785_ChIP-Seq_MESCs_Mouse1.08334328
138GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.08067834
139TCF4_23295773_ChIP-Seq_U87_Human1.06771329
140E2F1_21310950_ChIP-Seq_MCF-7_Human1.06717125
141SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.06531966
142FOXO3_23340844_ChIP-Seq_DLD1_Human1.06349457
143E2F4_17652178_ChIP-ChIP_JURKAT_Human1.06282771
144CRX_20693478_ChIP-Seq_RETINA_Mouse1.06162404
145TAF2_19829295_ChIP-Seq_ESCs_Human1.05635972
146* OCT4_20526341_ChIP-Seq_ESCs_Human1.05031419
147CDX2_20551321_ChIP-Seq_CACO-2_Human1.04600161
148CDX2_19796622_ChIP-Seq_MESCs_Mouse1.03779054
149EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.03755510
150PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.03708172
151SUZ12_27294783_Chip-Seq_NPCs_Mouse1.03131439
152* SETDB1_19884257_ChIP-Seq_MESCs_Mouse1.03098234
153RBPJ_21746931_ChIP-Seq_IB4_Human1.02519172
154CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.01987418
155PRDM14_20953172_ChIP-Seq_ESCs_Human1.01378794
156CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.01259490
157PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.00853405
158IRF8_22096565_ChIP-ChIP_GC-B_Human1.00774391
159FOXH1_21741376_ChIP-Seq_EPCs_Human1.00501593
160CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.99977378
161SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.99602857
162MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.98345424
163RUNX2_22187159_ChIP-Seq_PCA_Human0.97676836
164SMAD4_21741376_ChIP-Seq_EPCs_Human0.97672066
165* REST_21632747_ChIP-Seq_MESCs_Mouse0.96917353
166PHF8_20622853_ChIP-Seq_HELA_Human0.96645742
167HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.96430371
168BMI1_23680149_ChIP-Seq_NPCS_Mouse0.96128876
169EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.95262197
170PIAS1_25552417_ChIP-Seq_VCAP_Human0.94954467
171NFYA_21822215_ChIP-Seq_K562_Human0.94715796
172SRF_21415370_ChIP-Seq_HL-1_Mouse0.94345369
173CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.93918167
174IKZF1_21737484_ChIP-ChIP_HCT116_Human0.93335991
175* EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.93309511
176KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.93276343
177CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.93228544
178HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.92896714
179PPAR_26484153_Chip-Seq_NCI-H1993_Human0.92644095
180ETV1_20927104_ChIP-Seq_GIST48_Human0.91889930
181FOXM1_26456572_ChIP-Seq_MCF-7_Human0.91857190
182FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.88021668
183SOX2_18692474_ChIP-Seq_MEFs_Mouse0.87430179
184OCT4_18692474_ChIP-Seq_MEFs_Mouse0.86588606
185TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.85871172
186* MYC_19079543_ChIP-ChIP_MESCs_Mouse0.85008089
187ESR1_21235772_ChIP-Seq_MCF-7_Human0.84668304
188CTCF_27219007_Chip-Seq_Bcells_Human0.83691495
189CHD1_19587682_ChIP-ChIP_MESCs_Mouse0.83114054

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005377_hearing/vestibular/ear_phenot4.87896629
2MP0003878_abnormal_ear_physiology4.87896629
3MP0005451_abnormal_body_composition4.72178561
4MP0003718_maternal_effect4.40163964
5MP0010234_abnormal_vibrissa_follicle3.86749569
6MP0002822_catalepsy3.70186296
7MP0004147_increased_porphyrin_level3.41672833
8MP0005174_abnormal_tail_pigmentation3.15171952
9MP0003693_abnormal_embryo_hatching3.14774634
10MP0005551_abnormal_eye_electrophysiolog2.73859542
11MP0001986_abnormal_taste_sensitivity2.66138423
12MP0004185_abnormal_adipocyte_glucose2.54906200
13MP0002876_abnormal_thyroid_physiology2.46941986
14MP0003315_abnormal_perineum_morphology2.44529986
15MP0005187_abnormal_penis_morphology2.42466138
16MP0002638_abnormal_pupillary_reflex2.41865649
17MP0005171_absent_coat_pigmentation2.38205066
18MP0004043_abnormal_pH_regulation2.34249324
19MP0001968_abnormal_touch/_nociception2.33601939
20MP0006072_abnormal_retinal_apoptosis2.33285574
21MP0003950_abnormal_plasma_membrane2.31230077
22MP0003866_abnormal_defecation2.21694049
23MP0000490_abnormal_crypts_of2.20725939
24MP0003111_abnormal_nucleus_morphology2.20446895
25MP0002736_abnormal_nociception_after2.18959236
26MP0002254_reproductive_system_inflammat2.12373167
27MP0003136_yellow_coat_color2.09182617
28MP0004264_abnormal_extraembryonic_tissu2.08398936
29MP0000462_abnormal_digestive_system2.03565477
30MP0003646_muscle_fatigue1.97007741
31MP0005645_abnormal_hypothalamus_physiol1.95389582
32MP0005058_abnormal_lysosome_morphology1.94746396
33MP0001661_extended_life_span1.93313559
34MP0008260_abnormal_autophagy1.88896287
35MP0002163_abnormal_gland_morphology1.88397672
36MP0000015_abnormal_ear_pigmentation1.84283228
37MP0010094_abnormal_chromosome_stability1.81984296
38MP0005253_abnormal_eye_physiology1.81660503
39MP0005365_abnormal_bile_salt1.80917702
40MP0003195_calcinosis1.76315450
41MP0010678_abnormal_skin_adnexa1.75167723
42MP0005381_digestive/alimentary_phenotyp1.75085818
43MP0004957_abnormal_blastocyst_morpholog1.74387440
44MP0003868_abnormal_feces_composition1.73412009
45MP0001873_stomach_inflammation1.72744762
46MP0002160_abnormal_reproductive_system1.72081677
47MP0001663_abnormal_digestive_system1.71791515
48MP0002138_abnormal_hepatobiliary_system1.66177893
49MP0000569_abnormal_digit_pigmentation1.65325645
50MP0004142_abnormal_muscle_tone1.63040949
51MP0002132_abnormal_respiratory_system1.62519664
52MP0001984_abnormal_olfaction1.62364834
53* MP0008872_abnormal_physiological_respon1.61786448
54MP0006276_abnormal_autonomic_nervous1.59926802
55MP0005379_endocrine/exocrine_gland_phen1.57528257
56MP0003941_abnormal_skin_development1.53137004
57MP0005084_abnormal_gallbladder_morpholo1.50373322
58MP0003252_abnormal_bile_duct1.49763510
59MP0005085_abnormal_gallbladder_physiolo1.49221182
60MP0005167_abnormal_blood-brain_barrier1.48352816
61MP0005395_other_phenotype1.46947811
62MP0005410_abnormal_fertilization1.44405475
63MP0003699_abnormal_female_reproductive1.43203441
64MP0000477_abnormal_intestine_morphology1.43050136
65MP0000579_abnormal_nail_morphology1.42681217
66MP0005310_abnormal_salivary_gland1.42457624
67MP0000383_abnormal_hair_follicle1.42344080
68MP0005389_reproductive_system_phenotype1.42179413
69MP0003077_abnormal_cell_cycle1.41219533
70MP0001919_abnormal_reproductive_system1.40222038
71MP0004019_abnormal_vitamin_homeostasis1.39503675
72MP0005671_abnormal_response_to1.37319849
73MP0010329_abnormal_lipoprotein_level1.36664597
74MP0003183_abnormal_peptide_metabolism1.36551438
75MP0001501_abnormal_sleep_pattern1.36307567
76MP0005076_abnormal_cell_differentiation1.35512530
77MP0002837_dystrophic_cardiac_calcinosis1.34735168
78MP0001849_ear_inflammation1.33264107
79MP0009745_abnormal_behavioral_response1.31329487
80MP0002095_abnormal_skin_pigmentation1.31231574
81MP0003937_abnormal_limbs/digits/tail_de1.28363949
82MP0003453_abnormal_keratinocyte_physiol1.28171660
83MP0005646_abnormal_pituitary_gland1.26670315
84MP0003724_increased_susceptibility_to1.26664298
85MP0005423_abnormal_somatic_nervous1.25686413
86MP0000678_abnormal_parathyroid_gland1.25552231
87MP0008875_abnormal_xenobiotic_pharmacok1.21134805
88MP0001346_abnormal_lacrimal_gland1.20570608
89MP0000230_abnormal_systemic_arterial1.19982090
90MP0005670_abnormal_white_adipose1.19955707
91MP0000350_abnormal_cell_proliferation1.17735530
92MP0002796_impaired_skin_barrier1.16701337
93MP0001188_hyperpigmentation1.16552993
94MP0001970_abnormal_pain_threshold1.16470662
95MP0002272_abnormal_nervous_system1.15453207
96MP0002060_abnormal_skin_morphology1.15175866
97MP0001730_embryonic_growth_arrest1.13598663
98MP0001756_abnormal_urination1.13012363
99MP0005636_abnormal_mineral_homeostasis1.10448159
100MP0001216_abnormal_epidermal_layer1.10136031
101MP0001119_abnormal_female_reproductive1.09551448
102MP0001324_abnormal_eye_pigmentation1.06226578
103MP0000653_abnormal_sex_gland1.05989547
104MP0004885_abnormal_endolymph1.05393481
105MP0003011_delayed_dark_adaptation1.04849691
106MP0002653_abnormal_ependyma_morphology1.04699145
107MP0003880_abnormal_central_pattern1.04499507
108MP0003123_paternal_imprinting1.04198501
109MP0005083_abnormal_biliary_tract1.03511574
110MP0010386_abnormal_urinary_bladder1.03367211
111MP0002928_abnormal_bile_duct1.02725084
112MP0001666_abnormal_nutrient_absorption1.02175051
113MP0004133_heterotaxia1.02058202
114MP0002735_abnormal_chemical_nociception1.01777631
115MP0005360_urolithiasis1.01445081
116MP0002210_abnormal_sex_determination0.99612573
117MP0001485_abnormal_pinna_reflex0.98859549
118MP0000465_gastrointestinal_hemorrhage0.97423867
119MP0000647_abnormal_sebaceous_gland0.97416253
120MP0010155_abnormal_intestine_physiology0.96758817
121MP0002909_abnormal_adrenal_gland0.96635015
122MP0000427_abnormal_hair_cycle0.95739231
123MP0003705_abnormal_hypodermis_morpholog0.93235793
124MP0002249_abnormal_larynx_morphology0.91956746
125MP0004381_abnormal_hair_follicle0.91911733
126MP0005332_abnormal_amino_acid0.91211803
127MP0009840_abnormal_foam_cell0.90231323
128MP0009046_muscle_twitch0.90030645
129MP0001502_abnormal_circadian_rhythm0.89643796
130MP0002938_white_spotting0.89585573
131MP0009384_cardiac_valve_regurgitation0.89173514
132MP0010352_gastrointestinal_tract_polyps0.89140167
133MP0001765_abnormal_ion_homeostasis0.88757864
134MP0006036_abnormal_mitochondrial_physio0.88067188
135MP0001486_abnormal_startle_reflex0.87966913
136MP0003698_abnormal_male_reproductive0.86571570
137MP0002085_abnormal_embryonic_tissue0.86517440
138MP0005501_abnormal_skin_physiology0.85021565
139MP0000762_abnormal_tongue_morphology0.84346372
140MP0004484_altered_response_of0.84071293
141MP0002098_abnormal_vibrissa_morphology0.82148268
142MP0005408_hypopigmentation0.81906381
143MP0003755_abnormal_palate_morphology0.81065770
144MP0005380_embryogenesis_phenotype0.80992042
145MP0001672_abnormal_embryogenesis/_devel0.80992042
146MP0008877_abnormal_DNA_methylation0.80781538
147MP0005075_abnormal_melanosome_morpholog0.80710619
148MP0001929_abnormal_gametogenesis0.79591532
149MP0002102_abnormal_ear_morphology0.79259003
150MP0005386_behavior/neurological_phenoty0.78304854
151MP0004924_abnormal_behavior0.78304854
152MP0003938_abnormal_ear_development0.78113227
153MP0001764_abnormal_homeostasis0.78092025
154MP0001145_abnormal_male_reproductive0.77520638
155MP0006292_abnormal_olfactory_placode0.77444310
156MP0001905_abnormal_dopamine_level0.77439365
157MP0005195_abnormal_posterior_eye0.76250683
158MP0008789_abnormal_olfactory_epithelium0.76159790
159MP0008775_abnormal_heart_ventricle0.75666872
160MP0000377_abnormal_hair_follicle0.75253822
161MP0004782_abnormal_surfactant_physiolog0.73911096
162MP0009333_abnormal_splenocyte_physiolog0.73800003
163MP0000013_abnormal_adipose_tissue0.73536087
164MP0001664_abnormal_digestion0.73392752
165MP0000627_abnormal_mammary_gland0.73245260
166MP0002234_abnormal_pharynx_morphology0.72903857
167MP0000538_abnormal_urinary_bladder0.72068193
168MP0000613_abnormal_salivary_gland0.71652970
169MP0002733_abnormal_thermal_nociception0.70827960
170MP0008932_abnormal_embryonic_tissue0.70503009
171MP0002139_abnormal_hepatobiliary_system0.68322733
172MP0008873_increased_physiological_sensi0.68259868
173MP0000372_irregular_coat_pigmentation0.68048846
174MP0002277_abnormal_respiratory_mucosa0.67291922
175MP0000537_abnormal_urethra_morphology0.67249259

Predicted human phenotypes

RankGene SetZ-score
1Prostate neoplasm (HP:0100787)8.34821240
2Malnutrition (HP:0004395)6.31706519
3Congenital stationary night blindness (HP:0007642)5.20560241
4Pustule (HP:0200039)5.00152362
5Hyperactive renin-angiotensin system (HP:0000841)4.83987728
6Oligomenorrhea (HP:0000876)4.76822940
7Right ventricular cardiomyopathy (HP:0011663)4.45199388
8Attenuation of retinal blood vessels (HP:0007843)4.32311513
9Villous atrophy (HP:0011473)4.21568959
10Abnormality of small intestinal villus morphology (HP:0011472)4.21568959
11Flat capital femoral epiphysis (HP:0003370)4.12752542
12Metabolic alkalosis (HP:0200114)3.91098047
13Irregular epiphyses (HP:0010582)3.84843103
14Breast hypoplasia (HP:0003187)3.75304497
15Decreased electroretinogram (ERG) amplitude (HP:0000654)3.64665290
16Abnormality of the prostate (HP:0008775)3.52831834
17Pancreatic cysts (HP:0001737)3.32458844
18Decreased circulating renin level (HP:0003351)3.29521756
19Stomach cancer (HP:0012126)3.21425711
20Male infertility (HP:0003251)3.17670032
21Dyschromatopsia (HP:0007641)3.14549785
22Carpal bone hypoplasia (HP:0001498)3.11914755
23Breech presentation (HP:0001623)3.09719148
24Abnormality of midbrain morphology (HP:0002418)2.98663570
25Molar tooth sign on MRI (HP:0002419)2.98663570
26Abnormal rod and cone electroretinograms (HP:0008323)2.98326281
27True hermaphroditism (HP:0010459)2.93357939
28Ileus (HP:0002595)2.92924645
29Medial flaring of the eyebrow (HP:0010747)2.90846942
30Insulin-resistant diabetes mellitus (HP:0000831)2.88897686
31Adrenal hypoplasia (HP:0000835)2.84866140
32Birth length less than 3rd percentile (HP:0003561)2.83704418
33Abnormal albumin level (HP:0012116)2.83253207
34Hypoalbuminemia (HP:0003073)2.83253207
35Absent rod-and cone-mediated responses on ERG (HP:0007688)2.82211658
36Toxemia of pregnancy (HP:0100603)2.80685374
37Alopecia of scalp (HP:0002293)2.79630650
38Pancreatic fibrosis (HP:0100732)2.77364099
39Decreased central vision (HP:0007663)2.76035739
40Ventricular tachycardia (HP:0004756)2.74469318
41Hyperglycemia (HP:0003074)2.73923203
42Type II lissencephaly (HP:0007260)2.73474499
43Increased purine levels (HP:0004368)2.73181559
44Hyperuricemia (HP:0002149)2.73181559
45Patellar aplasia (HP:0006443)2.68774492
46Mitochondrial inheritance (HP:0001427)2.66464836
47Abnormality of the 1st metacarpal (HP:0010009)2.62563312
48Flat acetabular roof (HP:0003180)2.61345626
49Abnormality of renin-angiotensin system (HP:0000847)2.60347127
50Hyperglycinemia (HP:0002154)2.59866753
51Hepatocellular necrosis (HP:0001404)2.57993271
52Aplasia/Hypoplasia of the patella (HP:0006498)2.57281569
53Abnormality of the renal cortex (HP:0011035)2.55646772
54Facial hemangioma (HP:0000329)2.55534134
55Fragile nails (HP:0001808)2.55420394
56Concave nail (HP:0001598)2.55135099
57Increased CSF lactate (HP:0002490)2.55115932
58Mesangial abnormality (HP:0001966)2.54216617
59Optic disc pallor (HP:0000543)2.52485361
60Death in infancy (HP:0001522)2.52375069
61Shawl scrotum (HP:0000049)2.50625101
62Abnormality of chloride homeostasis (HP:0011422)2.49544138
633-Methylglutaconic aciduria (HP:0003535)2.49300830
64Hepatic necrosis (HP:0002605)2.48754359
65Reduced subcutaneous adipose tissue (HP:0003758)2.48085450
66Impulsivity (HP:0100710)2.46695382
67Chronic hepatic failure (HP:0100626)2.45876258
68Short 1st metacarpal (HP:0010034)2.42925994
69Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)2.42925994
70Infertility (HP:0000789)2.42853972
71Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.40592400
72Pendular nystagmus (HP:0012043)2.40479741
73Abnormal drinking behavior (HP:0030082)2.38340402
74Polydipsia (HP:0001959)2.38340402
75Cerebellar dysplasia (HP:0007033)2.37625445
76Increased hepatocellular lipid droplets (HP:0006565)2.37562842
77Abolished electroretinogram (ERG) (HP:0000550)2.37016271
78Milia (HP:0001056)2.36690460
79Lipid accumulation in hepatocytes (HP:0006561)2.35995217
80Delayed epiphyseal ossification (HP:0002663)2.35972523
81Nephronophthisis (HP:0000090)2.35132682
82Hypoalphalipoproteinemia (HP:0003233)2.33319722
83Conical tooth (HP:0000698)2.32927696
84Chromosomal breakage induced by crosslinking agents (HP:0003221)2.31764411
85Proximal placement of thumb (HP:0009623)2.31227950
86Dehydration (HP:0001944)2.30197109
87Segmental peripheral demyelination/remyelination (HP:0003481)2.29570764
88Onycholysis (HP:0001806)2.27575409
89Constricted visual fields (HP:0001133)2.27023822
90Breast aplasia (HP:0100783)2.25164539
91Neonatal respiratory distress (HP:0002643)2.24361779
92Aplasia/Hypoplasia of the breasts (HP:0010311)2.23440394
93Abnormality of male internal genitalia (HP:0000022)2.22689085
94Hypogonadotrophic hypogonadism (HP:0000044)2.22345800
95Abnormal cartilage morphology (HP:0002763)2.22005069
96Gaze-evoked nystagmus (HP:0000640)2.21480046
97Symphalangism affecting the phalanges of the hand (HP:0009773)2.21471372
98Hyperaldosteronism (HP:0000859)2.21347783
99Abnormality of the renal medulla (HP:0100957)2.20814485
100Multiple enchondromatosis (HP:0005701)2.17390265
101Sparse eyelashes (HP:0000653)2.17320417
102Deviation of the thumb (HP:0009603)2.17245015
103Ventricular fibrillation (HP:0001663)2.16079997
104Tubular atrophy (HP:0000092)2.15880875
105Supernumerary nipples (HP:0002558)2.15561167
106Renal Fanconi syndrome (HP:0001994)2.14760673
107Rough bone trabeculation (HP:0100670)2.13773190
108Congenital, generalized hypertrichosis (HP:0004540)2.13648286
109Abnormal protein glycosylation (HP:0012346)2.12846469
110Abnormal glycosylation (HP:0012345)2.12846469
111Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.12846469
112Abnormal protein N-linked glycosylation (HP:0012347)2.12846469
113Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.12595917
114Plantar hyperkeratosis (HP:0007556)2.12532915
115Abnormality of the pons (HP:0007361)2.12437023
116Premature ovarian failure (HP:0008209)2.12302125
117Disproportionate short-trunk short stature (HP:0003521)2.11508684
118Renal cortical cysts (HP:0000803)2.10604851
119Type I transferrin isoform profile (HP:0003642)2.09035492
120Bony spicule pigmentary retinopathy (HP:0007737)2.08072269
121Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.08049126
122Severe visual impairment (HP:0001141)2.07024671
123Polyuria (HP:0000103)2.06550019
124Congenital primary aphakia (HP:0007707)2.06358596
125Ureteral duplication (HP:0000073)2.05661600
126Hypoplasia of the pons (HP:0012110)2.02267123
127Gait imbalance (HP:0002141)2.02188588
128Alkalosis (HP:0001948)2.02177972
129Chromsome breakage (HP:0040012)2.01874151
130Abnormality of the distal phalanx of the thumb (HP:0009617)2.01459519
131Hyperlipoproteinemia (HP:0010980)2.01336714
132Acute necrotizing encephalopathy (HP:0006965)2.01007234
133Gout (HP:0001997)1.99791042
134Abnormality of the labia minora (HP:0012880)1.97530084
135Flattened epiphyses (HP:0003071)1.96272156
136Bundle branch block (HP:0011710)1.96029537
137Atrioventricular block (HP:0001678)1.94011788
138Photophobia (HP:0000613)1.90497380
139Vacuolated lymphocytes (HP:0001922)1.90124505
140Methylmalonic aciduria (HP:0012120)1.89350806
141Aplasia/Hypoplasia of the spleen (HP:0010451)1.89282839
142Abnormality of urine glucose concentration (HP:0011016)1.88990395
143Glycosuria (HP:0003076)1.88990395
144Nail dystrophy (HP:0008404)1.88036722
145Congenital sensorineural hearing impairment (HP:0008527)1.87898219
146Abnormality of the proximal phalanges of the hand (HP:0009834)1.87760059
147Macular degeneration (HP:0000608)1.87683793
148Short thumb (HP:0009778)1.87601519
149Hyperinsulinemic hypoglycemia (HP:0000825)1.87368255
150Acute encephalopathy (HP:0006846)1.85901133
151Retinitis pigmentosa (HP:0000510)1.85892661
152Abnormality of the 2nd finger (HP:0004100)1.85852843
153Maternal diabetes (HP:0009800)1.85436721
154Abnormality of dental color (HP:0011073)1.85302006
155Severe muscular hypotonia (HP:0006829)1.84491367
156Sparse lateral eyebrow (HP:0005338)1.84405436
157Abnormal delivery (HP:0001787)1.84404093
158Testicular atrophy (HP:0000029)1.84184101
159Hyperglycinuria (HP:0003108)1.83969000
160Hypokalemia (HP:0002900)1.83236676
161Short middle phalanx of finger (HP:0005819)1.82993779
162Chorioretinal atrophy (HP:0000533)1.82924925
163Asplenia (HP:0001746)1.82228877
164Ureteral stenosis (HP:0000071)1.82192040
165Increased serum lactate (HP:0002151)1.80972967
166Microretrognathia (HP:0000308)1.80697795
167Ectropion (HP:0000656)1.80517792
168Rib fusion (HP:0000902)1.80406657
169Hypomagnesemia (HP:0002917)1.80132248
170Abnormality of the costochondral junction (HP:0000919)1.79988381
171Progressive macrocephaly (HP:0004481)1.79182781
172Muscle fiber splitting (HP:0003555)1.77971844
173Short phalanx of the thumb (HP:0009660)1.76321356
174Abnormality of eosinophils (HP:0001879)1.75699844
175Congenital hepatic fibrosis (HP:0002612)1.75460950
176Type I diabetes mellitus (HP:0100651)1.73928815
177Cystic liver disease (HP:0006706)1.73678954
178Abdominal distention (HP:0003270)1.72178246
179Decreased subcutaneous fat (HP:0001002)1.71749559
180Abnormal atrioventricular conduction (HP:0005150)1.71603563
181Abnormality of macular pigmentation (HP:0008002)1.71435853
182Genital tract atresia (HP:0001827)1.71420132
183Increased intramyocellular lipid droplets (HP:0012240)1.71290963
184Absent radius (HP:0003974)1.70979996
185Nephrogenic diabetes insipidus (HP:0009806)1.70039777
186Amelogenesis imperfecta (HP:0000705)1.68946994
187Abnormality of B cell number (HP:0010975)1.67505964
188Aplasia/Hypoplasia involving the musculature (HP:0001460)1.67125976
189Exertional dyspnea (HP:0002875)1.65923673
190Type II diabetes mellitus (HP:0005978)1.65269421
191Abnormal urine output (HP:0012590)1.64156810
192Nephrotic syndrome (HP:0000100)1.63763114
193Delayed CNS myelination (HP:0002188)1.63515288

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MST1R9.65602663
2PIK3CA5.89550882
3KSR25.35562514
4MAP3K24.16397220
5MAP4K24.02852154
6PINK13.99855100
7MET3.73943984
8ADRBK23.14448809
9WNK43.07331004
10NME12.77365442
11MAP2K22.71780969
12EEF2K2.28987066
13STK392.18046429
14BUB12.14241206
15ACVR1B1.96499074
16LATS21.84992389
17CAMKK21.83750968
18MAP2K11.80238761
19BMPR1B1.77558292
20WNK31.70197182
21LATS11.70172446
22TRIM281.62728245
23MAPK151.59744644
24BCKDK1.58185643
25MAPKAPK31.57062656
26TTK1.48560569
27MAP3K61.46508544
28ADRBK11.42322399
29MAP3K81.40675781
30NEK21.35403643
31TLK11.35319891
32TESK21.31751319
33DAPK21.25775817
34PLK21.25039451
35MAPK131.24290288
36CDK91.23080850
37TXK1.20787221
38FLT31.18574440
39ERBB41.18341843
40MAP3K11.08981129
41KDR1.08689420
42STK38L1.07750779
43MUSK1.06292211
44TAOK11.04761078
45TEC1.03947088
46STK31.03721291
47CASK1.03175188
48TAOK30.99896377
49PIK3CG0.95529871
50MAP2K60.93808982
51INSRR0.93358432
52PLK40.92380620
53KIT0.91890562
54MELK0.90981046
55IRAK10.90535211
56AURKB0.86942831
57GRK60.84796592
58MAP3K90.84513309
59EPHA30.82421003
60CHEK20.81684021
61PRKCE0.81258917
62GRK70.80787146
63FRK0.76416105
64RET0.75644957
65RPS6KB20.74598240
66MATK0.74414247
67MAPKAPK50.72747661
68PLK10.69590145
69STK100.68456134
70MARK30.68444944
71PTK2B0.67449475
72PRKCQ0.66721175
73IKBKB0.66444452
74BCR0.64673878
75PHKG20.64187754
76PHKG10.64187754
77FGFR20.62992651
78CAMKK10.62790898
79RAF10.62274341
80NUAK10.61461995
81EPHA40.60450735
82VRK10.60428285
83DMPK0.59913352
84MAP3K120.59351071
85FER0.59053438
86PRKCG0.58430860
87WEE10.54401487
88AURKA0.53516360
89RPS6KA50.53443229
90ITK0.52820506
91CDK80.51724431
92DYRK20.50715496
93MAPK110.47769285
94CAMK2D0.47502045
95GRK50.47140462
96SIK20.46779703
97AKT30.45814865
98EIF2AK10.45480066
99PRKACA0.45408379
100MAP3K40.45195898
101MKNK20.44894523
102ALK0.44506189
103CDK40.43749605
104ERBB30.43486034
105PRKCA0.42914202
106PKN10.42822681
107CDK30.42731515
108SYK0.42222389
109BRAF0.42052014
110ERBB20.40234201
111IRAK40.39713663
112TRPM70.39533741
113OXSR10.38602008
114CSNK1A1L0.38591018
115CSNK1G20.38426517
116PAK60.38248403
117EPHA20.37781040
118LMTK20.36919330
119CSNK1G30.35657833
120PRKAA10.35615598
121PLK30.35273087
122LYN0.34742251
123CDK70.33897411
124TIE10.32587492
125CDK120.32566274
126TNIK0.32398513
127IGF1R0.32315161
128MARK10.31690102
129VRK20.31356781
130MOS0.31160082
131PIM20.31065620
132ARAF0.30599753
133CAMK2A0.30538556
134PAK10.29961255
135JAK20.29302580
136PRKCI0.29087992
137EIF2AK20.29084935
138PRKAA20.28363178
139MAP3K110.28223371
140STK110.27709661
141BRSK20.27428137
142DYRK30.27080077
143PAK30.26989230
144DDR20.24368680
145CDC70.24042903
146EIF2AK30.23817035
147ICK0.23516323
148CHEK10.23365349
149EPHB20.22275513
150GRK10.21545061
151BMPR20.21517230
152ABL20.19849278
153PRKG20.18836050
154BRSK10.18389152
155ZAK0.15134276
156CDC42BPA0.14359634
157CSNK1A10.14345590
158PTK20.13599841
159CDK190.13302940
160WNK10.12305081
161LIMK10.11768625
162MST40.10426283
163CSNK1E0.09864837
164SRPK10.08681522
165CSNK1D0.08612210
166ATM0.08306584
167CSNK1G10.07616886
168ATR0.06484829
169PDK20.06382577
170RPS6KA10.06205528
171AKT20.05176278

Predicted pathways (KEGG)

RankGene SetZ-score
1Mineral absorption_Homo sapiens_hsa049785.39725062
2Vitamin B6 metabolism_Homo sapiens_hsa007505.25486473
3Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001303.90150179
4Nitrogen metabolism_Homo sapiens_hsa009103.70440140
5RNA polymerase_Homo sapiens_hsa030202.94862921
6Phototransduction_Homo sapiens_hsa047442.92956663
7Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.58315402
8Thyroid cancer_Homo sapiens_hsa052162.57347327
9Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.45188861
10Caffeine metabolism_Homo sapiens_hsa002322.44073179
11Folate biosynthesis_Homo sapiens_hsa007902.26819234
12Sulfur metabolism_Homo sapiens_hsa009202.16493475
13RNA transport_Homo sapiens_hsa030132.11459065
14Cell cycle_Homo sapiens_hsa041102.11082133
15Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.05170956
16Bile secretion_Homo sapiens_hsa049761.97285146
17Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.96733403
18Dorso-ventral axis formation_Homo sapiens_hsa043201.96250614
19Glycerophospholipid metabolism_Homo sapiens_hsa005641.95630634
20Bladder cancer_Homo sapiens_hsa052191.91258255
21Oxidative phosphorylation_Homo sapiens_hsa001901.89648224
22Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.89516684
23Protein export_Homo sapiens_hsa030601.77858971
24Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.71125357
25Linoleic acid metabolism_Homo sapiens_hsa005911.67799577
26Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.65669638
27Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.65390826
28alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.62445772
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.60797334
30Vitamin digestion and absorption_Homo sapiens_hsa049771.60332828
31Chemical carcinogenesis_Homo sapiens_hsa052041.58265939
32Other glycan degradation_Homo sapiens_hsa005111.57733449
33Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.55681857
34Glycerolipid metabolism_Homo sapiens_hsa005611.55417490
35Steroid hormone biosynthesis_Homo sapiens_hsa001401.52524817
36p53 signaling pathway_Homo sapiens_hsa041151.50398027
37Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.46554446
38Parkinsons disease_Homo sapiens_hsa050121.42396224
39Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.39922204
40Sphingolipid metabolism_Homo sapiens_hsa006001.39200379
41Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.35709634
42Basal transcription factors_Homo sapiens_hsa030221.35197214
43Fat digestion and absorption_Homo sapiens_hsa049751.33991339
44Intestinal immune network for IgA production_Homo sapiens_hsa046721.33217323
45Regulation of autophagy_Homo sapiens_hsa041401.31530713
46Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.31460001
47Peroxisome_Homo sapiens_hsa041461.29193692
48Oocyte meiosis_Homo sapiens_hsa041141.28251644
49Tight junction_Homo sapiens_hsa045301.26580789
50Nicotine addiction_Homo sapiens_hsa050331.22324922
51Pentose phosphate pathway_Homo sapiens_hsa000301.22258470
52Ovarian steroidogenesis_Homo sapiens_hsa049131.20631802
53Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.19901425
54Primary bile acid biosynthesis_Homo sapiens_hsa001201.17021271
55Type I diabetes mellitus_Homo sapiens_hsa049401.13363284
56Primary immunodeficiency_Homo sapiens_hsa053401.11301070
57Pentose and glucuronate interconversions_Homo sapiens_hsa000401.10231822
58Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.09945013
59Pyrimidine metabolism_Homo sapiens_hsa002401.09579558
60Propanoate metabolism_Homo sapiens_hsa006401.09316536
61Proteasome_Homo sapiens_hsa030501.08732352
62Graft-versus-host disease_Homo sapiens_hsa053321.07695386
63Collecting duct acid secretion_Homo sapiens_hsa049661.06774003
64Ether lipid metabolism_Homo sapiens_hsa005651.04703938
65Allograft rejection_Homo sapiens_hsa053301.01870142
66GnRH signaling pathway_Homo sapiens_hsa049120.93854819
67Asthma_Homo sapiens_hsa053100.91671746
68Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.91626148
69Huntingtons disease_Homo sapiens_hsa050160.89743995
70ABC transporters_Homo sapiens_hsa020100.89038212
71Choline metabolism in cancer_Homo sapiens_hsa052310.86779242
72Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.85295448
73Taste transduction_Homo sapiens_hsa047420.84707365
74Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.82022525
75Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.81139167
76Purine metabolism_Homo sapiens_hsa002300.80396951
77Olfactory transduction_Homo sapiens_hsa047400.80039762
78NOD-like receptor signaling pathway_Homo sapiens_hsa046210.79993275
79TGF-beta signaling pathway_Homo sapiens_hsa043500.79866305
80Sulfur relay system_Homo sapiens_hsa041220.78824442
81Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.77912110
82Alzheimers disease_Homo sapiens_hsa050100.77263446
83Adherens junction_Homo sapiens_hsa045200.75476803
84RNA degradation_Homo sapiens_hsa030180.75350979
85Circadian rhythm_Homo sapiens_hsa047100.74044155
86Fatty acid degradation_Homo sapiens_hsa000710.73806602
87Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.73330723
88Autoimmune thyroid disease_Homo sapiens_hsa053200.72318414
89Pancreatic secretion_Homo sapiens_hsa049720.71018488
90mTOR signaling pathway_Homo sapiens_hsa041500.69642377
91Fanconi anemia pathway_Homo sapiens_hsa034600.69620379
92beta-Alanine metabolism_Homo sapiens_hsa004100.69510723
93Arachidonic acid metabolism_Homo sapiens_hsa005900.67720576
94Pancreatic cancer_Homo sapiens_hsa052120.67478965
95Inositol phosphate metabolism_Homo sapiens_hsa005620.65395442
96Renal cell carcinoma_Homo sapiens_hsa052110.59919129
97Histidine metabolism_Homo sapiens_hsa003400.59716385
98Non-homologous end-joining_Homo sapiens_hsa034500.57995965
99Cyanoamino acid metabolism_Homo sapiens_hsa004600.56461051
100Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.56297307
101Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.56286440
102Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.55499157
103Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.55266384
104Serotonergic synapse_Homo sapiens_hsa047260.55062740
105Hepatitis C_Homo sapiens_hsa051600.54744651
106Prion diseases_Homo sapiens_hsa050200.54263544
107Vascular smooth muscle contraction_Homo sapiens_hsa042700.54160478
108Retinol metabolism_Homo sapiens_hsa008300.54150296
109Small cell lung cancer_Homo sapiens_hsa052220.53461738
110Fatty acid elongation_Homo sapiens_hsa000620.53455783
111Endometrial cancer_Homo sapiens_hsa052130.53370645
112Hippo signaling pathway_Homo sapiens_hsa043900.52362902
113Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.51938087
114MicroRNAs in cancer_Homo sapiens_hsa052060.51902535
115Hematopoietic cell lineage_Homo sapiens_hsa046400.51869140
116Non-small cell lung cancer_Homo sapiens_hsa052230.49990504
117VEGF signaling pathway_Homo sapiens_hsa043700.49858155
118Fatty acid metabolism_Homo sapiens_hsa012120.49021957
119Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.48682996
120Homologous recombination_Homo sapiens_hsa034400.48084416
121Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.47938806
122Colorectal cancer_Homo sapiens_hsa052100.47778016
123Cardiac muscle contraction_Homo sapiens_hsa042600.47351075
124Melanoma_Homo sapiens_hsa052180.45120954
125Cysteine and methionine metabolism_Homo sapiens_hsa002700.43913281
126Selenocompound metabolism_Homo sapiens_hsa004500.43740666
127Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.42784660
128Calcium signaling pathway_Homo sapiens_hsa040200.42008964
129Protein digestion and absorption_Homo sapiens_hsa049740.40195147
130Steroid biosynthesis_Homo sapiens_hsa001000.40145802
131Drug metabolism - other enzymes_Homo sapiens_hsa009830.39804597
132Antigen processing and presentation_Homo sapiens_hsa046120.38587061
133Rheumatoid arthritis_Homo sapiens_hsa053230.37818733
134One carbon pool by folate_Homo sapiens_hsa006700.36344367
135Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.34032024
136Tryptophan metabolism_Homo sapiens_hsa003800.32977050
137Long-term depression_Homo sapiens_hsa047300.32861695
138Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.31294846
139ErbB signaling pathway_Homo sapiens_hsa040120.30673041
140Biosynthesis of amino acids_Homo sapiens_hsa012300.30132128
141Salmonella infection_Homo sapiens_hsa051320.29920115
142HIF-1 signaling pathway_Homo sapiens_hsa040660.28344918
143Maturity onset diabetes of the young_Homo sapiens_hsa049500.28110578
144Prolactin signaling pathway_Homo sapiens_hsa049170.27731708
145Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.27304246
146ECM-receptor interaction_Homo sapiens_hsa045120.26782434
147Gap junction_Homo sapiens_hsa045400.26068534
148Chronic myeloid leukemia_Homo sapiens_hsa052200.25990630
149Glutathione metabolism_Homo sapiens_hsa004800.25548111
150Butanoate metabolism_Homo sapiens_hsa006500.25277163
151DNA replication_Homo sapiens_hsa030300.24051246
152Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.23922915
153Spliceosome_Homo sapiens_hsa030400.22764350
154Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.22513631
155Shigellosis_Homo sapiens_hsa051310.22379427
156Arginine and proline metabolism_Homo sapiens_hsa003300.22320998
157Prostate cancer_Homo sapiens_hsa052150.22185549
158Metabolic pathways_Homo sapiens_hsa011000.20203098

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