SLC4A5

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 a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1spliceosomal tri-snRNP complex assembly (GO:0000244)5.81606450
2sulfate transport (GO:0008272)5.61145154
3behavioral response to ethanol (GO:0048149)5.54900768
4prenylation (GO:0097354)5.51860561
5protein prenylation (GO:0018342)5.51860561
6regulation of inhibitory postsynaptic membrane potential (GO:0060080)5.38158203
7short-term memory (GO:0007614)5.18041424
8regulation of dopamine uptake involved in synaptic transmission (GO:0051584)5.00029793
9regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)5.00029793
10positive regulation of sodium ion transmembrane transporter activity (GO:2000651)4.89962389
11behavioral response to nicotine (GO:0035095)4.89902312
12retinol metabolic process (GO:0042572)4.84351715
13hindbrain development (GO:0030902)4.82750113
14adaptation of signaling pathway (GO:0023058)4.77660776
15positive regulation of synaptic transmission, dopaminergic (GO:0032226)4.70791364
16sulfate transmembrane transport (GO:1902358)4.69968487
17notochord development (GO:0030903)4.58068634
18regulation of neurotransmitter uptake (GO:0051580)4.53833000
19regulation of gene silencing by RNA (GO:0060966)4.49072357
20regulation of posttranscriptional gene silencing (GO:0060147)4.49072357
21regulation of gene silencing by miRNA (GO:0060964)4.49072357
22regulation of penile erection (GO:0060405)4.44094949
23specification of organ identity (GO:0010092)4.41014404
24protein-chromophore linkage (GO:0018298)4.25522717
25positive regulation of sodium ion transmembrane transport (GO:1902307)4.13808685
26anterior/posterior axis specification, embryo (GO:0008595)3.99422678
27multicellular organism reproduction (GO:0032504)3.86881442
28paraxial mesoderm development (GO:0048339)3.78648421
29positive regulation of SMAD protein import into nucleus (GO:0060391)3.75453708
30response to histamine (GO:0034776)3.61056120
31regulation of telomere maintenance via telomerase (GO:0032210)3.60822650
32fat-soluble vitamin metabolic process (GO:0006775)3.59525827
33thyroid gland development (GO:0030878)3.56645543
34protein localization to kinetochore (GO:0034501)3.55406411
35epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.52086227
36regulation of hippo signaling (GO:0035330)3.46328013
37surfactant homeostasis (GO:0043129)3.44401247
38regulation of rhodopsin mediated signaling pathway (GO:0022400)3.43783074
39behavioral response to cocaine (GO:0048148)3.42874479
40histone H4-K12 acetylation (GO:0043983)3.41328494
41nonmotile primary cilium assembly (GO:0035058)3.37679251
42cell-cell junction maintenance (GO:0045217)3.37458136
43fucose catabolic process (GO:0019317)3.37008719
44L-fucose metabolic process (GO:0042354)3.37008719
45L-fucose catabolic process (GO:0042355)3.37008719
46RNA destabilization (GO:0050779)3.36075291
47primary alcohol metabolic process (GO:0034308)3.35538488
48icosanoid secretion (GO:0032309)3.33486095
49arachidonic acid secretion (GO:0050482)3.33486095
50chemosensory behavior (GO:0007635)3.32213353
51DNA replication checkpoint (GO:0000076)3.30916447
52intestinal epithelial cell development (GO:0060576)3.30257198
53positive regulation of oligodendrocyte differentiation (GO:0048714)3.29062508
54pyrimidine nucleobase catabolic process (GO:0006208)3.29049338
55DNA deamination (GO:0045006)3.27415005
56establishment of protein localization to Golgi (GO:0072600)3.26723678
57response to parathyroid hormone (GO:0071107)3.25721184
58rhodopsin mediated signaling pathway (GO:0016056)3.24878117
59positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:003603.24522463
60mitotic nuclear envelope disassembly (GO:0007077)3.24284338
61retinal rod cell development (GO:0046548)3.23222814
62sulfur compound transport (GO:0072348)3.23136947
63response to misfolded protein (GO:0051788)3.20873271
64DNA replication-dependent nucleosome assembly (GO:0006335)3.20567538
65DNA replication-dependent nucleosome organization (GO:0034723)3.20567538
66piRNA metabolic process (GO:0034587)3.20033835
67detection of light stimulus involved in visual perception (GO:0050908)3.18896005
68detection of light stimulus involved in sensory perception (GO:0050962)3.18896005
69mitotic sister chromatid segregation (GO:0000070)3.18144574
70histone H2A ubiquitination (GO:0033522)3.17617465
71indole-containing compound catabolic process (GO:0042436)3.15854430
72indolalkylamine catabolic process (GO:0046218)3.15854430
73tryptophan catabolic process (GO:0006569)3.15854430
74sodium-independent organic anion transport (GO:0043252)3.15179874
75nuclear pore complex assembly (GO:0051292)3.14272800
76embryonic placenta development (GO:0001892)3.12727721
77melanin biosynthetic process (GO:0042438)3.12283209
78negative regulation of mast cell activation (GO:0033004)3.11193805
79kynurenine metabolic process (GO:0070189)3.10369276
80female genitalia development (GO:0030540)3.10116978
81nuclear pore organization (GO:0006999)3.09851786
82icosanoid transport (GO:0071715)3.09760318
83fatty acid derivative transport (GO:1901571)3.09760318
84regulation of action potential (GO:0098900)3.09152955
85synaptic transmission, dopaminergic (GO:0001963)3.08943793
86RNA localization (GO:0006403)3.08675359
87DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla3.06813424
88positive regulation of mRNA processing (GO:0050685)3.06738540
89establishment of apical/basal cell polarity (GO:0035089)3.06093311
90indolalkylamine metabolic process (GO:0006586)3.04672048
91mitochondrial respiratory chain complex I assembly (GO:0032981)3.04649761
92NADH dehydrogenase complex assembly (GO:0010257)3.04649761
93mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.04649761
94keratan sulfate catabolic process (GO:0042340)3.04512475
95water-soluble vitamin biosynthetic process (GO:0042364)3.03271339
96protein targeting to Golgi (GO:0000042)3.00855845
97cellular response to electrical stimulus (GO:0071257)3.00511476
98regulation of SMAD protein import into nucleus (GO:0060390)3.00421227
99determination of adult lifespan (GO:0008340)3.00252264
100regulation of nuclear cell cycle DNA replication (GO:0033262)3.00078169
101axoneme assembly (GO:0035082)2.99874840
102regulation of voltage-gated calcium channel activity (GO:1901385)2.99330327
103nuclear envelope disassembly (GO:0051081)2.98217662
104membrane disassembly (GO:0030397)2.98217662
105G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.97959383
106retinal metabolic process (GO:0042574)2.95693588
107regulation of mitotic spindle organization (GO:0060236)2.95107167
108cell junction maintenance (GO:0034331)2.94565840
109folic acid metabolic process (GO:0046655)2.94537903
110positive regulation of DNA-dependent DNA replication (GO:2000105)2.93755266
111cilium or flagellum-dependent cell motility (GO:0001539)2.93719956
112DNA methylation involved in gamete generation (GO:0043046)2.93231389
113trophectodermal cell differentiation (GO:0001829)2.92008392
114behavioral defense response (GO:0002209)2.91941222
115behavioral fear response (GO:0001662)2.91941222
116positive regulation of amine transport (GO:0051954)2.91728488
117somatic diversification of immune receptors via somatic mutation (GO:0002566)2.90093900
118somatic hypermutation of immunoglobulin genes (GO:0016446)2.90093900
119vitamin transmembrane transport (GO:0035461)2.90020825
120regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00432.89609532
121neuronal action potential (GO:0019228)2.89456136
122cell fate commitment involved in formation of primary germ layer (GO:0060795)2.88293509
123regulation of synaptic transmission, dopaminergic (GO:0032225)2.88111552
124negative regulation of adenylate cyclase activity (GO:0007194)2.88023987
125somite rostral/caudal axis specification (GO:0032525)2.87222023
126mitotic metaphase plate congression (GO:0007080)2.86076947
127histone H4-K8 acetylation (GO:0043982)2.85405878
128histone H4-K5 acetylation (GO:0043981)2.85405878
129folic acid transport (GO:0015884)2.85202925
130phototransduction (GO:0007602)2.84688102
131epithelial cilium movement (GO:0003351)2.83823934
132negative regulation of hormone biosynthetic process (GO:0032353)2.83174570
133negative regulation of hormone metabolic process (GO:0032351)2.83174570
134detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.81497720
135phototransduction, visible light (GO:0007603)2.80910385
136cellular ketone body metabolic process (GO:0046950)2.80333662
137positive regulation of mRNA metabolic process (GO:1903313)2.80020787
138regulation of microtubule-based movement (GO:0060632)2.78867257
139response to lead ion (GO:0010288)2.77989080
140nucleobase catabolic process (GO:0046113)2.76109701
141protein localization to Golgi apparatus (GO:0034067)2.75928863
142negative regulation of cAMP biosynthetic process (GO:0030818)2.73925205
143melanin metabolic process (GO:0006582)2.72428724
144protein localization to chromosome, centromeric region (GO:0071459)2.72004150
145photoreceptor cell development (GO:0042461)2.71929675
146hormone catabolic process (GO:0042447)2.71492277
147negative regulation of lyase activity (GO:0051350)2.71279140
148negative regulation of cyclase activity (GO:0031280)2.70556592
149transmission of nerve impulse (GO:0019226)2.69234838
150regulation of sister chromatid cohesion (GO:0007063)2.69218495
151membrane depolarization during action potential (GO:0086010)2.68949543
152retinal cone cell development (GO:0046549)2.68714222
153membrane repolarization during action potential (GO:0086011)2.68675840
154DNA replication initiation (GO:0006270)2.68636484
155regulation of translation in response to stress (GO:0043555)2.67730713
156tryptophan metabolic process (GO:0006568)2.66891879
157retinoid metabolic process (GO:0001523)2.65993164
158detection of light stimulus (GO:0009583)2.65293874
159hyperosmotic salinity response (GO:0042538)2.64789137
160proline biosynthetic process (GO:0006561)2.64551684
161DNA damage response, signal transduction resulting in transcription (GO:0042772)2.64406466
162regulation of dopamine metabolic process (GO:0042053)2.63773651
163regulation of catecholamine metabolic process (GO:0042069)2.63773651
164ubiquinone biosynthetic process (GO:0006744)2.62855280
165protein complex biogenesis (GO:0070271)2.62235040
166heterochromatin organization (GO:0070828)2.61925751
167photoreceptor cell maintenance (GO:0045494)2.61527316
168negative regulation of cyclic nucleotide biosynthetic process (GO:0030803)2.61265246
169morphogenesis of an epithelial fold (GO:0060571)2.60643648
170spinal cord motor neuron differentiation (GO:0021522)2.60465370
171retrograde transport, vesicle recycling within Golgi (GO:0000301)2.59824946
172regulation of alternative mRNA splicing, via spliceosome (GO:0000381)2.59461347
173head development (GO:0060322)2.59363690
174negative regulation of histone methylation (GO:0031061)2.59300216
175mitotic chromosome condensation (GO:0007076)2.58678225
176regulation of cilium movement (GO:0003352)2.57889606
177negative regulation of telomere maintenance (GO:0032205)2.57512422
178fear response (GO:0042596)2.56738891
179cAMP catabolic process (GO:0006198)2.56380572
180negative regulation of purine nucleotide biosynthetic process (GO:1900372)2.55300239
181negative regulation of nucleotide biosynthetic process (GO:0030809)2.55300239
182ketone body metabolic process (GO:1902224)2.55225796
183misfolded or incompletely synthesized protein catabolic process (GO:0006515)2.55205765
184histone arginine methylation (GO:0034969)2.54432315
185ubiquinone metabolic process (GO:0006743)2.54107601
186negative regulation of androgen receptor signaling pathway (GO:0060766)2.53957887
187cilium morphogenesis (GO:0060271)2.53651237
188positive regulation of neurotransmitter transport (GO:0051590)2.52380669
189postsynaptic membrane organization (GO:0001941)2.52073328
190sister chromatid segregation (GO:0000819)2.51709422
191formation of translation preinitiation complex (GO:0001731)2.50431436
192pituitary gland development (GO:0021983)2.50244073
193thyroid hormone generation (GO:0006590)13.9576817
194vitamin A metabolic process (GO:0006776)12.3267936
195thyroid hormone metabolic process (GO:0042403)11.4861397

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.64593319
2KLF5_18264089_ChIP-ChIP_MESCs_Mouse4.90642663
3KLF4_18264089_ChIP-ChIP_MESCs_Mouse4.90642663
4KLF2_18264089_ChIP-ChIP_MESCs_Mouse4.90642663
5NANOG_18700969_ChIP-ChIP_MESCs_Mouse4.62717436
6EZH2_22144423_ChIP-Seq_EOC_Human3.73737806
7POU5F1_18700969_ChIP-ChIP_MESCs_Mouse3.54874688
8E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.41740906
9GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.40601355
10ZNF274_21170338_ChIP-Seq_K562_Hela3.37597825
11SMAD1_18555785_ChIP-Seq_MESCs_Mouse3.36955184
12FOXM1_23109430_ChIP-Seq_U2OS_Human3.16590012
13NACC1_18358816_ChIP-ChIP_MESCs_Mouse3.14195711
14SMAD3_22036565_ChIP-Seq_ESCs_Mouse3.09424840
15GBX2_23144817_ChIP-Seq_PC3_Human3.05541944
16VDR_22108803_ChIP-Seq_LS180_Human3.00901392
17ZIC3_20872845_ChIP-ChIP_MESCs_Mouse2.88952642
18TCF3_18692474_ChIP-Seq_MEFs_Mouse2.87264429
19SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.83611149
20TCF3_18692474_ChIP-Seq_MESCs_Mouse2.66820035
21SALL1_21062744_ChIP-ChIP_HESCs_Human2.61484473
22CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.52507681
23ZFP57_27257070_Chip-Seq_ESCs_Mouse2.46666933
24NR0B1_18358816_ChIP-ChIP_MESCs_Mouse2.42286850
25MYC_18555785_ChIP-Seq_MESCs_Mouse2.39478247
26IGF1R_20145208_ChIP-Seq_DFB_Human2.38337165
27ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.33105499
28SALL4_18804426_ChIP-ChIP_MESCs_Mouse2.24968019
29NANOG_18347094_ChIP-ChIP_MESCs_Mouse2.23242395
30STAT3_1855785_ChIP-Seq_MESCs_Mouse2.21884954
31GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.21149491
32POU5F1_18358816_ChIP-ChIP_MESCs_Mouse2.18795841
33CTBP2_25329375_ChIP-Seq_LNCAP_Human2.18704269
34FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.16367632
35NANOG_18555785_ChIP-Seq_MESCs_Mouse2.14082972
36FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.10350965
37MYC_19079543_ChIP-ChIP_MESCs_Mouse2.07220893
38KLF4_18358816_ChIP-ChIP_MESCs_Mouse2.04969648
39NANOG_18358816_ChIP-ChIP_MESCs_Mouse2.03879868
40E2F4_17652178_ChIP-ChIP_JURKAT_Human2.03865734
41TAF15_26573619_Chip-Seq_HEK293_Human2.01069742
42POU3F2_20337985_ChIP-ChIP_501MEL_Human2.01058471
43POU5F1_16518401_ChIP-PET_MESCs_Mouse1.99816654
44CTBP1_25329375_ChIP-Seq_LNCAP_Human1.95206205
45P300_19829295_ChIP-Seq_ESCs_Human1.95045662
46TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.84688092
47EWS_26573619_Chip-Seq_HEK293_Human1.82884413
48AR_21909140_ChIP-Seq_LNCAP_Human1.82723630
49FLI1_27457419_Chip-Seq_LIVER_Mouse1.81428971
50NANOG_21062744_ChIP-ChIP_HESCs_Human1.78705769
51NANOG_18692474_ChIP-Seq_MESCs_Mouse1.78400146
52NANOG_18692474_ChIP-Seq_MEFs_Mouse1.77000778
53AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.76531793
54ER_23166858_ChIP-Seq_MCF-7_Human1.74165836
55SOX2_18692474_ChIP-Seq_MEFs_Mouse1.73211728
56EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.71797884
57BCAT_22108803_ChIP-Seq_LS180_Human1.71338486
58FUS_26573619_Chip-Seq_HEK293_Human1.67927680
59TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.67924305
60SOX2_18692474_ChIP-Seq_MESCs_Mouse1.66790420
61SOX2_18555785_ChIP-Seq_MESCs_Mouse1.65944503
62* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.65024035
63REST_21632747_ChIP-Seq_MESCs_Mouse1.64673570
64MYC_19030024_ChIP-ChIP_MESCs_Mouse1.62398947
65* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.62029120
66CBX2_27304074_Chip-Seq_ESCs_Mouse1.59387352
67HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.57801117
68AR_25329375_ChIP-Seq_VCAP_Human1.57082975
69STAT3_23295773_ChIP-Seq_U87_Human1.56046048
70SMAD4_21799915_ChIP-Seq_A2780_Human1.55972383
71PCGF2_27294783_Chip-Seq_ESCs_Mouse1.55611621
72BP1_19119308_ChIP-ChIP_Hs578T_Human1.52163230
73OCT4_18692474_ChIP-Seq_MEFs_Mouse1.47827808
74PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.47205997
75ZFP281_18757296_ChIP-ChIP_E14_Mouse1.46501940
76BMI1_23680149_ChIP-Seq_NPCS_Mouse1.45135758
77MYC_18358816_ChIP-ChIP_MESCs_Mouse1.44739075
78RNF2_27304074_Chip-Seq_NSC_Mouse1.44382683
79EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.43659021
80TCF4_23295773_ChIP-Seq_U87_Human1.42852833
81MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.42753006
82GATA1_22025678_ChIP-Seq_K562_Human1.41888010
83POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.41813681
84MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.39994596
85BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.36865606
86POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.36743157
87TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.36743157
88KAP1_27257070_Chip-Seq_ESCs_Mouse1.36595336
89EZH2_27304074_Chip-Seq_ESCs_Mouse1.36476093
90NELFA_20434984_ChIP-Seq_ESCs_Mouse1.36370958
91JARID2_20064375_ChIP-Seq_MESCs_Mouse1.35964367
92DROSHA_22980978_ChIP-Seq_HELA_Human1.35597869
93* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.35207581
94MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.34483056
95RUNX2_22187159_ChIP-Seq_PCA_Human1.34359027
96MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.33120847
97NANOG_16518401_ChIP-PET_MESCs_Mouse1.32603266
98HIF1A_21447827_ChIP-Seq_MCF-7_Human1.31937496
99AR_21572438_ChIP-Seq_LNCaP_Human1.31434608
100TCF4_22108803_ChIP-Seq_LS180_Human1.30848141
101PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.30721958
102SMAD3_21741376_ChIP-Seq_EPCs_Human1.30063913
103ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.27686083
104PCGF2_27294783_Chip-Seq_NPCs_Mouse1.27238371
105PIAS1_25552417_ChIP-Seq_VCAP_Human1.27156719
106POU5F1_18347094_ChIP-ChIP_MESCs_Mouse1.26944520
107NOTCH1_21737748_ChIP-Seq_TLL_Human1.26605651
108CBP_20019798_ChIP-Seq_JUKART_Human1.25578582
109IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.25578582
110IRF1_19129219_ChIP-ChIP_H3396_Human1.23427844
111KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.21637140
112NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.20652895
113EGR1_19374776_ChIP-ChIP_THP-1_Human1.19859316
114KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.19290856
115PRDM14_20953172_ChIP-Seq_ESCs_Human1.19052574
116NR3C1_21868756_ChIP-Seq_MCF10A_Human1.19035593
117E2F1_18555785_ChIP-Seq_MESCs_Mouse1.19019418
118TP53_22573176_ChIP-Seq_HFKS_Human1.18451248
119* KLF5_20875108_ChIP-Seq_MESCs_Mouse1.18246851
120JARID2_20075857_ChIP-Seq_MESCs_Mouse1.18027915
121EED_16625203_ChIP-ChIP_MESCs_Mouse1.17783489
122TOP2B_26459242_ChIP-Seq_MCF-7_Human1.17731231
123EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.17691806
124EZH2_27294783_Chip-Seq_ESCs_Mouse1.17534104
125* GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.17468789
126TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.15103149
127SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.14439066
128OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.14206477
129MYCN_18555785_ChIP-Seq_MESCs_Mouse1.13940400
130SUZ12_27294783_Chip-Seq_NPCs_Mouse1.13648037
131EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.13575259
132SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.12859581
133ESR1_15608294_ChIP-ChIP_MCF-7_Human1.12496845
134GATA3_21878914_ChIP-Seq_MCF-7_Human1.10467412
135* SMAD4_21741376_ChIP-Seq_EPCs_Human1.10415686
136NCOR_22424771_ChIP-Seq_293T_Human1.10404986
137ETV2_25802403_ChIP-Seq_MESCs_Mouse1.08697842
138FOXA1_27270436_Chip-Seq_PROSTATE_Human1.08363770
139FOXA1_25329375_ChIP-Seq_VCAP_Human1.08363770
140EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.08176472
141TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.07520441
142SUZ12_27294783_Chip-Seq_ESCs_Mouse1.07458484
143TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.07159401
144NANOG_18555785_Chip-Seq_ESCs_Mouse1.06292857
145SOX2_19829295_ChIP-Seq_ESCs_Human1.05470849
146NANOG_19829295_ChIP-Seq_ESCs_Human1.05470849
147RNF2_27304074_Chip-Seq_ESCs_Mouse1.05091938
148CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.04941703
149POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.04799631
150REST_18959480_ChIP-ChIP_MESCs_Mouse1.04431609
151KLF4_18555785_ChIP-Seq_MESCs_Mouse1.04357808
152ESR2_21235772_ChIP-Seq_MCF-7_Human1.03731064
153EZH2_27294783_Chip-Seq_NPCs_Mouse1.03548710
154P53_22387025_ChIP-Seq_ESCs_Mouse1.02834890
155NFE2_27457419_Chip-Seq_LIVER_Mouse1.01956847
156ZFP281_27345836_Chip-Seq_ESCs_Mouse1.00859409
157SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.00858702
158TAL1_26923725_Chip-Seq_HPCs_Mouse0.99905727
159ERA_21632823_ChIP-Seq_H3396_Human0.99110202
160TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.99066278
161FOXA1_21572438_ChIP-Seq_LNCaP_Human0.98816710
162E2F1_18555785_Chip-Seq_ESCs_Mouse0.98375165
163HOXB7_26014856_ChIP-Seq_BT474_Human0.97977369
164FLI1_21867929_ChIP-Seq_TH2_Mouse0.97923785
165TBX3_20139965_ChIP-Seq_ESCs_Mouse0.93315739
166TBX3_20139965_ChIP-Seq_MESCs_Mouse0.90918619
167TP63_17297297_ChIP-ChIP_HaCaT_Human0.90792405
168XRN2_22483619_ChIP-Seq_HELA_Human0.89168750
169E2F1_21310950_ChIP-Seq_MCF-7_Human0.89029209
170RACK7_27058665_Chip-Seq_MCF-7_Human0.88863935
171TP53_22127205_ChIP-Seq_IMR90_Human0.87223432
172TFEB_21752829_ChIP-Seq_HELA_Human0.86799418
173ATF3_27146783_Chip-Seq_COLON_Human0.86504789
174RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.86287593
175STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.85870790
176TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.85120567
177CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.84886313
178DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.84728810
179CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.84128925
180RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.83517183
181KDM5A_27292631_Chip-Seq_BREAST_Human0.82631366
182GATA6_25053715_ChIP-Seq_YYC3_Human0.82531446
183EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.81679863
184KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.81446076
185TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.80991616
186CDX2_20551321_ChIP-Seq_CACO-2_Human0.80432889
187YY1_21170310_ChIP-Seq_MESCs_Mouse0.80147307
188ESR1_21235772_ChIP-Seq_MCF-7_Human0.79097923
189SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.78902721
190NANOG_16153702_ChIP-ChIP_HESCs_Human0.78756363
191KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.77641311
192NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.75867922
193STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.74878040
194MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.74524551
195SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.74315721
196* ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.74039761
197RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.73515767
198SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.72990716

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002638_abnormal_pupillary_reflex3.25027508
2MP0004019_abnormal_vitamin_homeostasis3.22678021
3MP0003195_calcinosis2.77742933
4MP0000678_abnormal_parathyroid_gland2.68786684
5MP0005253_abnormal_eye_physiology2.65643240
6MP0005551_abnormal_eye_electrophysiolog2.61641948
7MP0008004_abnormal_stomach_pH2.61381062
8MP0000681_abnormal_thyroid_gland2.60894714
9MP0002653_abnormal_ependyma_morphology2.58915885
10MP0001968_abnormal_touch/_nociception2.30436427
11MP0009745_abnormal_behavioral_response2.15232980
12MP0005423_abnormal_somatic_nervous2.14844005
13MP0004885_abnormal_endolymph2.14486098
14MP0002102_abnormal_ear_morphology2.10693076
15MP0003646_muscle_fatigue2.05772979
16MP0004957_abnormal_blastocyst_morpholog2.02365819
17MP0003136_yellow_coat_color2.00186466
18MP0003011_delayed_dark_adaptation11.9327897
19MP0004043_abnormal_pH_regulation1.97905398
20MP0002735_abnormal_chemical_nociception1.96673534
21MP0001984_abnormal_olfaction1.93850701
22MP0009046_muscle_twitch1.93553850
23MP0010352_gastrointestinal_tract_polyps1.92236893
24MP0002572_abnormal_emotion/affect_behav1.88947072
25MP0004142_abnormal_muscle_tone1.88779300
26MP0002272_abnormal_nervous_system1.87666578
27MP0001501_abnormal_sleep_pattern1.85863240
28MP0010094_abnormal_chromosome_stability1.83610835
29MP0001905_abnormal_dopamine_level1.83212875
30MP0000383_abnormal_hair_follicle1.80740935
31MP0001324_abnormal_eye_pigmentation1.80733811
32MP0003693_abnormal_embryo_hatching1.80217445
33MP0003786_premature_aging1.78425466
34MP0008872_abnormal_physiological_respon1.76159271
35MP0004133_heterotaxia1.75184517
36MP0001958_emphysema1.74339372
37MP0001486_abnormal_startle_reflex1.73999443
38MP0002837_dystrophic_cardiac_calcinosis1.72991574
39MP0004264_abnormal_extraembryonic_tissu1.72966044
40MP0002736_abnormal_nociception_after1.69017483
41MP0001986_abnormal_taste_sensitivity1.66811320
42MP0010678_abnormal_skin_adnexa1.65933895
43MP0000372_irregular_coat_pigmentation1.64759807
44MP0005645_abnormal_hypothalamus_physiol1.63503856
45MP0008057_abnormal_DNA_replication1.62562841
46MP0000427_abnormal_hair_cycle1.61482897
47MP0003283_abnormal_digestive_organ1.58947544
48MP0006276_abnormal_autonomic_nervous1.58104971
49MP0005257_abnormal_intraocular_pressure1.56993975
50MP0003111_abnormal_nucleus_morphology1.56934683
51MP0004147_increased_porphyrin_level1.56444121
52MP0004782_abnormal_surfactant_physiolog1.54661694
53MP0003806_abnormal_nucleotide_metabolis1.54579812
54MP0002876_abnormal_thyroid_physiology1.54101561
55MP0005391_vision/eye_phenotype1.53591060
56MP0008995_early_reproductive_senescence1.52139962
57MP0003890_abnormal_embryonic-extraembry1.51802772
58MP0003119_abnormal_digestive_system1.48569427
59MP0001485_abnormal_pinna_reflex1.48016559
60MP0001970_abnormal_pain_threshold1.45916948
61MP0001849_ear_inflammation1.45309826
62MP0002063_abnormal_learning/memory/cond1.43282344
63MP0002733_abnormal_thermal_nociception1.42590139
64MP0010030_abnormal_orbit_morphology1.42179153
65MP0002064_seizures1.42128441
66MP0003635_abnormal_synaptic_transmissio1.38278771
67MP0003880_abnormal_central_pattern1.37076374
68MP0002938_white_spotting1.35298352
69MP0002734_abnormal_mechanical_nocicepti1.35173073
70MP0003718_maternal_effect1.33883345
71MP0002557_abnormal_social/conspecific_i1.33869402
72MP0002067_abnormal_sensory_capabilities1.32364107
73MP0004859_abnormal_synaptic_plasticity1.26297899
74MP0003077_abnormal_cell_cycle1.26185835
75MP0001730_embryonic_growth_arrest1.25634992
76MP0000778_abnormal_nervous_system1.25628304
77MP0000371_diluted_coat_color1.25503976
78MP0005171_absent_coat_pigmentation1.25067737
79MP0008875_abnormal_xenobiotic_pharmacok1.25021622
80MP0000350_abnormal_cell_proliferation1.24212197
81MP0003705_abnormal_hypodermis_morpholog1.23888265
82MP0002928_abnormal_bile_duct1.23211413
83MP0004145_abnormal_muscle_electrophysio1.19022437
84MP0001529_abnormal_vocalization1.18925866
85MP0005174_abnormal_tail_pigmentation1.18532778
86MP0004742_abnormal_vestibular_system1.17736660
87MP0002752_abnormal_somatic_nervous1.17307259
88MP0002085_abnormal_embryonic_tissue1.17192277
89MP0002084_abnormal_developmental_patter1.16803211
90MP0005084_abnormal_gallbladder_morpholo1.16738633
91MP0001440_abnormal_grooming_behavior1.14087340
92MP0003186_abnormal_redox_activity1.14030994
93MP0005167_abnormal_blood-brain_barrier1.13260799
94MP0008789_abnormal_olfactory_epithelium1.12739327
95MP0000631_abnormal_neuroendocrine_gland1.12350988
96MP0003878_abnormal_ear_physiology1.11902513
97MP0005377_hearing/vestibular/ear_phenot1.11902513
98MP0005380_embryogenesis_phenotype1.11790839
99MP0001672_abnormal_embryogenesis/_devel1.11790839
100MP0005646_abnormal_pituitary_gland1.10697713
101MP0002086_abnormal_extraembryonic_tissu1.10171108
102MP0005075_abnormal_melanosome_morpholog1.08750297
103MP0002332_abnormal_exercise_endurance1.06374636
104MP0006072_abnormal_retinal_apoptosis1.05676754
105MP0001293_anophthalmia1.04997747
106MP0005195_abnormal_posterior_eye1.04428120
107MP0004924_abnormal_behavior1.02425884
108MP0005386_behavior/neurological_phenoty1.02425884
109MP0003123_paternal_imprinting1.01267360
110MP0008961_abnormal_basal_metabolism0.98391304
111MP0000569_abnormal_digit_pigmentation0.98287794
112MP0005671_abnormal_response_to0.97989887
113MP0005410_abnormal_fertilization0.97646700
114MP0008775_abnormal_heart_ventricle0.97105235
115MP0008058_abnormal_DNA_repair0.96970045
116MP0000462_abnormal_digestive_system0.96929511
117MP0005666_abnormal_adipose_tissue0.95966097
118MP0002277_abnormal_respiratory_mucosa0.95287260
119MP0002229_neurodegeneration0.94846207
120MP0001348_abnormal_lacrimal_gland0.92386300
121MP0003698_abnormal_male_reproductive0.92239282
122MP0001697_abnormal_embryo_size0.91752889
123MP0010234_abnormal_vibrissa_follicle0.91506495
124MP0000537_abnormal_urethra_morphology0.91260362
125MP0003787_abnormal_imprinting0.91199440
126MP0000026_abnormal_inner_ear0.91100987
127MP0005248_abnormal_Harderian_gland0.90946691
128MP0003984_embryonic_growth_retardation0.90453632
129MP0000955_abnormal_spinal_cord0.90180457
130MP0010386_abnormal_urinary_bladder0.89568831
131MP0002882_abnormal_neuron_morphology0.89502977
132MP0005076_abnormal_cell_differentiation0.89210385
133MP0002233_abnormal_nose_morphology0.87349344
134MP0002751_abnormal_autonomic_nervous0.86974122
135MP0002092_abnormal_eye_morphology0.86642928
136MP0008932_abnormal_embryonic_tissue0.86060054
137MP0002088_abnormal_embryonic_growth/wei0.86028567
138MP0001963_abnormal_hearing_physiology0.85332587
139MP0001145_abnormal_male_reproductive0.85228900
140MP0002090_abnormal_vision0.84501341
141MP0003453_abnormal_keratinocyte_physiol0.83117447
142MP0003566_abnormal_cell_adhesion0.82335237
143MP0002184_abnormal_innervation0.82040473
144MP0005023_abnormal_wound_healing0.81650614
145MP0003950_abnormal_plasma_membrane0.81031013
146MP0003943_abnormal_hepatobiliary_system0.78812269
147MP0003941_abnormal_skin_development0.77636709
148MP0004084_abnormal_cardiac_muscle0.77487552
149MP0005395_other_phenotype0.76862253
150MP0002069_abnormal_eating/drinking_beha0.76416886
151MP0000230_abnormal_systemic_arterial0.76400479
152MP0004197_abnormal_fetal_growth/weight/0.75737567
153MP0006292_abnormal_olfactory_placode0.75301079
154MP0005501_abnormal_skin_physiology0.74977181
155MP0000566_synostosis0.74248314
156MP0000534_abnormal_ureter_morphology0.74006069
157MP0001929_abnormal_gametogenesis0.73797578
158MP0009278_abnormal_bone_marrow0.72782965
159MP0002080_prenatal_lethality0.72228971
160MP0002127_abnormal_cardiovascular_syste0.71393708
161MP0000653_abnormal_sex_gland0.71143204
162MP0003935_abnormal_craniofacial_develop0.70239909
163MP0002210_abnormal_sex_determination0.69613164
164MP0005266_abnormal_metabolism0.68410335
165MP0002075_abnormal_coat/hair_pigmentati0.67820385
166MP0003172_abnormal_lysosome_physiology0.67682601
167MP0000490_abnormal_crypts_of0.66860941
168MP0000428_abnormal_craniofacial_morphol0.66728229
169MP0008877_abnormal_DNA_methylation0.66205730
170MP0002925_abnormal_cardiovascular_devel0.65167159
171MP0004272_abnormal_basement_membrane0.64503626
172MP0008007_abnormal_cellular_replicative0.61292949
173MP0005408_hypopigmentation0.60550445
174MP0002249_abnormal_larynx_morphology0.59877779
175MP0009840_abnormal_foam_cell0.56987068
176MP0002796_impaired_skin_barrier0.56061733
177MP0000579_abnormal_nail_morphology0.55565492

Predicted human phenotypes

RankGene SetZ-score
1Goiter (HP:0000853)5.93226498
2Abnormality of the fovea (HP:0000493)5.90323953
3Decreased electroretinogram (ERG) amplitude (HP:0000654)5.76486481
4Pili torti (HP:0003777)5.56080497
5Hypopigmentation of the fundus (HP:0007894)4.80291039
6Hyperphosphatemia (HP:0002905)4.74727078
7Attenuation of retinal blood vessels (HP:0007843)4.66310159
8Choroideremia (HP:0001139)4.19621650
9Hypoplasia of the fovea (HP:0007750)4.11673529
10Aplasia/Hypoplasia of the fovea (HP:0008060)4.11673529
11Bony spicule pigmentary retinopathy (HP:0007737)4.10200842
12Molar tooth sign on MRI (HP:0002419)4.05275505
13Abnormality of midbrain morphology (HP:0002418)4.05275505
14Pancreatic cysts (HP:0001737)3.97165982
15Thyroid-stimulating hormone excess (HP:0002925)3.87577096
16Nephronophthisis (HP:0000090)3.84964329
17Congenital stationary night blindness (HP:0007642)3.57350778
18Pancreatic fibrosis (HP:0100732)3.53028509
19Decreased central vision (HP:0007663)3.48103390
20Abnormality of the renal cortex (HP:0011035)3.44032871
21Abnormality of the renal medulla (HP:0100957)3.40793047
22Medial flaring of the eyebrow (HP:0010747)3.34692716
23Bilateral microphthalmos (HP:0007633)3.33649333
24Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)3.26097989
25Abnormal rod and cone electroretinograms (HP:0008323)3.25497529
26True hermaphroditism (HP:0010459)3.23665004
27Gait imbalance (HP:0002141)3.20922047
28Abnormal hair laboratory examination (HP:0003328)3.20293608
29Shawl scrotum (HP:0000049)3.18258873
30Scotoma (HP:0000575)3.16378770
31Vascular calcification (HP:0004934)3.13645759
32Aplasia/Hypoplasia of the macula (HP:0008059)3.10017838
33Subcapsular cataract (HP:0000523)3.08081293
34Type II lissencephaly (HP:0007260)3.06161876
35Abnormality of the labia minora (HP:0012880)3.04015934
36Breast hypoplasia (HP:0003187)3.02131739
37Chronic hepatic failure (HP:0100626)2.98753094
38Orthostatic hypotension (HP:0001278)2.97156855
39Aplasia/Hypoplasia affecting the retina (HP:0008061)2.91590381
40Annular pancreas (HP:0001734)2.91295819
41Chorioretinal atrophy (HP:0000533)2.89113039
42Chronic bronchitis (HP:0004469)2.83155543
43Rectovaginal fistula (HP:0000143)2.82806954
44Rectal fistula (HP:0100590)2.82806954
45Hyperventilation (HP:0002883)2.81585073
46Ependymoma (HP:0002888)2.77699167
47Severe muscular hypotonia (HP:0006829)2.77227589
48Cardiovascular calcification (HP:0011915)2.76136314
49Nephrogenic diabetes insipidus (HP:0009806)2.72244719
50Keratoconus (HP:0000563)2.72136638
51Increased corneal curvature (HP:0100692)2.72136638
52Congenital primary aphakia (HP:0007707)2.71427293
53Tubular atrophy (HP:0000092)2.70908159
54Lissencephaly (HP:0001339)2.70647278
55Dynein arm defect of respiratory motile cilia (HP:0012255)2.64146691
56Absent/shortened dynein arms (HP:0200106)2.64146691
57Intestinal fistula (HP:0100819)2.63709204
58Tetany (HP:0001281)2.63422237
59Aplasia/hypoplasia of the humerus (HP:0006507)2.58262126
60Pendular nystagmus (HP:0012043)2.58211119
61Cone-rod dystrophy (HP:0000548)2.56255290
62Short humerus (HP:0005792)2.56049858
63Abnormality of the lower motor neuron (HP:0002366)2.54801344
64Vaginal fistula (HP:0004320)2.54490294
65Retinal atrophy (HP:0001105)2.48223165
66Abnormality of the salivary glands (HP:0010286)2.47328122
67Broad-based gait (HP:0002136)2.45214142
68Rib fusion (HP:0000902)2.43926467
69Retinal dysplasia (HP:0007973)2.40284963
70Absent radius (HP:0003974)2.40159800
71Abnormal respiratory motile cilium morphology (HP:0005938)2.40093300
72Abnormal respiratory epithelium morphology (HP:0012253)2.40093300
73Absent speech (HP:0001344)2.37913526
74Pachygyria (HP:0001302)2.37763640
75Type II diabetes mellitus (HP:0005978)2.37712638
76Cystic liver disease (HP:0006706)2.36830663
77Fetal akinesia sequence (HP:0001989)2.34299855
78Onycholysis (HP:0001806)2.33042165
79Abnormal drinking behavior (HP:0030082)2.32471211
80Polydipsia (HP:0001959)2.32471211
81Supernumerary spleens (HP:0009799)2.32043106
82Gaze-evoked nystagmus (HP:0000640)2.30504268
83Inability to walk (HP:0002540)2.29036802
84Large for gestational age (HP:0001520)2.27956606
85Aplasia involving forearm bones (HP:0009822)2.26935488
86Absent forearm bone (HP:0003953)2.26935488
87Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.24690023
88Abnormality of alanine metabolism (HP:0010916)2.24690023
89Hyperalaninemia (HP:0003348)2.24690023
90Male infertility (HP:0003251)2.23896382
91Spinal muscular atrophy (HP:0007269)2.23144302
92Clumsiness (HP:0002312)2.22812575
93Abnormal ciliary motility (HP:0012262)2.22803129
94Genital tract atresia (HP:0001827)2.20581726
95Abnormality of the astrocytes (HP:0100707)2.16755137
96Astrocytoma (HP:0009592)2.16755137
97Progressive cerebellar ataxia (HP:0002073)2.16602446
98Anencephaly (HP:0002323)2.16573688
99Nonprogressive disorder (HP:0003680)2.16298912
100Stomach cancer (HP:0012126)2.15029979
101Protruding tongue (HP:0010808)2.13782909
102Vaginal atresia (HP:0000148)2.13478633
103Abolished electroretinogram (ERG) (HP:0000550)2.13312469
104Abnormality of macular pigmentation (HP:0008002)2.12865180
105Genetic anticipation (HP:0003743)2.10511631
106Hypochromic microcytic anemia (HP:0004840)2.10164385
107Urethral obstruction (HP:0000796)2.08705790
108Aplasia/Hypoplasia of the sternum (HP:0006714)2.07668426
109Renal cortical cysts (HP:0000803)2.06762214
110Pigmentary retinal degeneration (HP:0001146)2.04958704
111Progressive inability to walk (HP:0002505)2.04369525
112Polyuria (HP:0000103)2.04004272
113Photophobia (HP:0000613)2.02704605
114Thyroid carcinoma (HP:0002890)2.02246881
115Partial duplication of thumb phalanx (HP:0009944)2.02115319
116Poor coordination (HP:0002370)2.01333862
117Patellar aplasia (HP:0006443)2.01287353
118Hemiparesis (HP:0001269)2.00515382
119Widely spaced teeth (HP:0000687)2.00183142
120Neoplasm of the oral cavity (HP:0100649)1.98482964
121Hypotension (HP:0002615)1.98431161
122Congenital hepatic fibrosis (HP:0002612)1.97934425
123Congenital, generalized hypertrichosis (HP:0004540)1.97774369
124Abnormality of permanent molar morphology (HP:0011071)1.97499880
125Abnormality of the dental root (HP:0006486)1.97499880
126Taurodontia (HP:0000679)1.97499880
127Tented upper lip vermilion (HP:0010804)1.96556884
128Rhabdomyosarcoma (HP:0002859)1.95769058
129Renal salt wasting (HP:0000127)1.95682340
130Tongue fasciculations (HP:0001308)1.94850360
131Constricted visual fields (HP:0001133)1.94740725
132Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.93900201
133Increased CSF lactate (HP:0002490)1.92735240
134Sclerocornea (HP:0000647)1.92082357
135Muscle fibrillation (HP:0010546)1.90641379
136Abnormality of the hepatic vasculature (HP:0006707)1.88210552
137Selective tooth agenesis (HP:0001592)1.88134759
138Interstitial pulmonary disease (HP:0006530)1.87795317
139Retinitis pigmentosa (HP:0000510)1.87506470
140Aplasia/Hypoplasia of the patella (HP:0006498)1.87470898
141Febrile seizures (HP:0002373)1.86997222
142Abnormality of the aortic arch (HP:0012303)1.86348413
143Methylmalonic acidemia (HP:0002912)1.86042057
144Esotropia (HP:0000565)1.85362491
145Medulloblastoma (HP:0002885)1.84715705
146Hypothyroidism (HP:0000821)1.84603840
147Cerebellar dysplasia (HP:0007033)1.83305237
148Carpal bone hypoplasia (HP:0001498)1.83208537
149Drooling (HP:0002307)1.82962194
150Congenital sensorineural hearing impairment (HP:0008527)1.81973144
151Neoplasm of striated muscle (HP:0009728)1.81659358
152Macular degeneration (HP:0000608)1.81430482
153Abnormality of the pons (HP:0007361)1.78952352
154Portal hypertension (HP:0001409)1.78509872
155Colon cancer (HP:0003003)1.78286580
156Posterior subcapsular cataract (HP:0007787)1.78028465
157Increased CSF protein (HP:0002922)1.77945700
158Birth length less than 3rd percentile (HP:0003561)1.77821508
159Aplasia/Hypoplasia of the tibia (HP:0005772)1.77610580
160Absent rod-and cone-mediated responses on ERG (HP:0007688)1.77513944
161Aplasia/Hypoplasia of the tongue (HP:0010295)1.77044547
162Abdominal situs inversus (HP:0003363)1.76970977
163Abnormality of abdominal situs (HP:0011620)1.76970977
164Hypoalphalipoproteinemia (HP:0003233)1.76847558
165Partial agenesis of the corpus callosum (HP:0001338)1.76213413
166Abnormal respiratory motile cilium physiology (HP:0012261)1.75883451
167Malignant gastrointestinal tract tumors (HP:0006749)1.75768568
168Gastrointestinal carcinoma (HP:0002672)1.75768568
169Hypoplasia of the uterus (HP:0000013)1.75514412
170Abnormality of molar (HP:0011077)1.75463773
171Abnormality of molar morphology (HP:0011070)1.75463773
1723-Methylglutaconic aciduria (HP:0003535)1.75231333
173Hypoplasia of the pons (HP:0012110)1.74643462
174Postaxial hand polydactyly (HP:0001162)1.73938627
175Furrowed tongue (HP:0000221)1.72966016
176Aplasia/Hypoplasia of the lens (HP:0008063)1.70985758
177Focal seizures (HP:0007359)1.70590784
178Myokymia (HP:0002411)1.70108281
179Severe visual impairment (HP:0001141)1.69925367
180Abnormality of renal resorption (HP:0011038)1.68577711

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDK126.08265415
2FRK4.97927380
3PRPF4B4.22589959
4BMPR1B4.05428108
5TTK3.58731034
6TAOK23.26341649
7STK102.93280892
8EPHA22.90097392
9ADRBK22.70081483
10CASK2.64356234
11AKT32.63756184
12ACVR1B2.59781813
13ZAK2.30417335
14OXSR12.20556154
15MARK12.20499052
16MELK2.19603044
17GRK12.15092851
18MAPK132.03179786
19MAPKAPK32.02300016
20WNK31.99829158
21PAK41.95689066
22NEK11.92489685
23TAOK31.91941712
24TGFBR11.90883099
25INSRR1.89635542
26CHEK21.89532390
27RPS6KB21.89402387
28TESK11.84364007
29TGFBR21.83790176
30MAP4K21.82910259
31PTK61.82841601
32MST41.81594595
33PLK11.80927933
34PNCK1.79312478
35CDK191.74592687
36MATK1.66708915
37DAPK21.66672067
38PINK11.65768447
39DDR21.64133502
40CDK71.62500567
41STK38L1.62187618
42CDC71.59128026
43TYRO31.58193311
44TLK11.55675288
45ICK1.55593244
46RIPK11.50043237
47DYRK21.49868087
48WNK41.47596573
49MAPK151.45276191
50TNIK1.42456306
51NEK21.40643385
52LATS21.39036633
53MAP3K41.35505985
54BMX1.35217440
55NUAK11.34778910
56MAP3K91.34667307
57TXK1.33050478
58KSR21.32544531
59MAP3K101.23638909
60NTRK31.23616053
61PLK41.22748618
62MAP3K81.20775721
63MAP3K61.20197686
64MKNK21.18744788
65LATS11.17099856
66MAP3K111.17052433
67PKN11.15765731
68ERN11.08955574
69BUB11.08682539
70GRK51.08061710
71PRKCG1.05324417
72PLK31.04227481
73MET1.01920412
74PAK31.01534089
75WEE10.93818879
76TESK20.93008951
77AURKA0.92738676
78MUSK0.91794440
79LIMK10.91285412
80MOS0.90156528
81RPS6KA50.87843452
82ADRBK10.87300295
83PDK20.86436315
84PRKCI0.84198365
85LRRK20.81467310
86CDK80.80986125
87MTOR0.80967117
88GSK3A0.77840230
89ATR0.77108573
90CHEK10.76958226
91SIK20.76302843
92TSSK60.73924879
93VRK10.73104753
94ATM0.72961654
95STK110.72188127
96PTK2B0.72106411
97STK380.71674015
98SGK2230.71101074
99SGK4940.71101074
100CAMK1G0.69395584
101PRKCE0.68793072
102MAP2K60.67843841
103CSNK1G20.67767235
104AURKB0.65495338
105TEC0.65225391
106AKT20.65212104
107NME10.62708460
108CDC42BPA0.62059432
109DYRK30.61822398
110CSNK1G10.60699369
111TRIM280.60500027
112CDK20.60071499
113CDK60.59116424
114MAP3K50.59049599
115NTRK20.58945738
116RET0.58377952
117CSK0.57895171
118GRK60.57504294
119CSNK1E0.57457249
120PRKG20.56926669
121FGFR10.55848084
122CDK40.55700520
123IKBKB0.54380524
124CAMK1D0.54171266
125MAPKAPK50.51829837
126TIE10.50950900
127ALK0.50938896
128PRKCQ0.48542547
129FGFR20.48244744
130STK40.47718025
131STK390.47713684
132CSNK1G30.47488812
133PIK3CA0.47183935
134PRKAA10.46457148
135ITK0.45692390
136PBK0.45623834
137EIF2AK10.44407520
138CAMK2A0.44310329
139IRAK30.43691476
140CDK30.43166360
141CAMK10.42940667
142CSF1R0.42874150
143CDK10.42604008
144SCYL20.42053323
145CHUK0.41814210
146CSNK1A1L0.40485071
147LMTK20.40482846
148STK30.40463987
149DAPK10.40082063
150MAP2K70.39883731
151KIT0.39451806
152MAPK70.39315189
153CSNK1D0.38459749
154FGR0.37739230
155PRKG10.37503758
156SGK20.36909238
157EPHA30.36787441
158PRKCZ0.36564159
159PHKG10.35874066
160PHKG20.35874066
161WNK10.35784057
162ERBB30.35110757
163CAMKK20.34810436
164PRKACA0.34721198
165PRKAA20.34516335
166CAMK40.34225574
167ABL10.33986006
168FES0.33718714
169CSNK1A10.33627307
170EIF2AK20.33367220
171PAK10.33347053
172TAF10.32622360
173INSR0.32491870
174MAP2K20.32244601
175PTK20.31856022
176PKN20.31812716
177PIK3CG0.31360178
178OBSCN0.31318904
179NTRK10.31145406
180PRKACB0.30994245
181MAP3K70.30965614
182PLK20.30336379
183GSK3B0.30120329
184DYRK1A0.29617105
185NLK0.29591516
186MKNK10.29309490

Predicted pathways (KEGG)

RankGene SetZ-score
1Autoimmune thyroid disease_Homo sapiens_hsa053203.80202409
2Nitrogen metabolism_Homo sapiens_hsa009103.28442921
3Phototransduction_Homo sapiens_hsa047442.98887778
4Mismatch repair_Homo sapiens_hsa034302.97833549
5Retinol metabolism_Homo sapiens_hsa008302.92561812
6DNA replication_Homo sapiens_hsa030302.81825062
7Mineral absorption_Homo sapiens_hsa049782.52755518
8Nicotine addiction_Homo sapiens_hsa050332.52459867
9Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.47228474
10Tyrosine metabolism_Homo sapiens_hsa003502.45834545
11Thyroid hormone synthesis_Homo sapiens_hsa049182.39560497
12Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.39343276
13Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.39181403
14Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.25399963
15Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.20463743
16Vitamin digestion and absorption_Homo sapiens_hsa049772.17922721
17Butanoate metabolism_Homo sapiens_hsa006502.13970559
18Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.08461100
19Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.08322075
20Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.04512640
21mTOR signaling pathway_Homo sapiens_hsa041501.92922353
22RNA transport_Homo sapiens_hsa030131.84512428
23Protein export_Homo sapiens_hsa030601.80545648
24Oxidative phosphorylation_Homo sapiens_hsa001901.80352593
25Base excision repair_Homo sapiens_hsa034101.79875493
26Glycosaminoglycan degradation_Homo sapiens_hsa005311.76797840
27ABC transporters_Homo sapiens_hsa020101.76529949
28Cell cycle_Homo sapiens_hsa041101.67569858
29Fructose and mannose metabolism_Homo sapiens_hsa000511.66805754
30Tryptophan metabolism_Homo sapiens_hsa003801.66088129
31Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.62237068
32Spliceosome_Homo sapiens_hsa030401.61915231
33Morphine addiction_Homo sapiens_hsa050321.56012538
34Taste transduction_Homo sapiens_hsa047421.55060522
35alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.54629887
36Hippo signaling pathway_Homo sapiens_hsa043901.52366827
37Maturity onset diabetes of the young_Homo sapiens_hsa049501.51786616
38Linoleic acid metabolism_Homo sapiens_hsa005911.50623237
39Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.49865351
40Galactose metabolism_Homo sapiens_hsa000521.46055032
41Pentose and glucuronate interconversions_Homo sapiens_hsa000401.39270863
42One carbon pool by folate_Homo sapiens_hsa006701.39116874
43Tight junction_Homo sapiens_hsa045301.37465678
44Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.36618211
45Caffeine metabolism_Homo sapiens_hsa002321.34636635
46Biosynthesis of amino acids_Homo sapiens_hsa012301.33147245
47Intestinal immune network for IgA production_Homo sapiens_hsa046721.29666870
48Fanconi anemia pathway_Homo sapiens_hsa034601.28127785
49Vitamin B6 metabolism_Homo sapiens_hsa007501.27969188
50Parkinsons disease_Homo sapiens_hsa050121.26590967
51Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.24164143
52Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.22466649
53GABAergic synapse_Homo sapiens_hsa047271.21819388
54Olfactory transduction_Homo sapiens_hsa047401.21377288
55Steroid hormone biosynthesis_Homo sapiens_hsa001401.21219336
56Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.20140568
57Thyroid hormone signaling pathway_Homo sapiens_hsa049191.17024631
58Adherens junction_Homo sapiens_hsa045201.16097903
59Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.15594628
60Ether lipid metabolism_Homo sapiens_hsa005651.15383668
61Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.15268638
62Arachidonic acid metabolism_Homo sapiens_hsa005901.13943211
63Primary bile acid biosynthesis_Homo sapiens_hsa001201.13166443
64Regulation of autophagy_Homo sapiens_hsa041401.13096301
65TGF-beta signaling pathway_Homo sapiens_hsa043501.12410310
66Insulin secretion_Homo sapiens_hsa049111.12386335
67Homologous recombination_Homo sapiens_hsa034401.11451045
68Nucleotide excision repair_Homo sapiens_hsa034201.11127992
69Ovarian steroidogenesis_Homo sapiens_hsa049131.11047456
70Peroxisome_Homo sapiens_hsa041461.09881597
71Fat digestion and absorption_Homo sapiens_hsa049751.08038191
72Folate biosynthesis_Homo sapiens_hsa007901.06406741
73Glutamatergic synapse_Homo sapiens_hsa047241.04481111
74p53 signaling pathway_Homo sapiens_hsa041151.03738897
75Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.01029345
76Other glycan degradation_Homo sapiens_hsa005110.99483026
77Renin-angiotensin system_Homo sapiens_hsa046140.99191887
78Serotonergic synapse_Homo sapiens_hsa047260.99175228
79Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.99120517
80Dopaminergic synapse_Homo sapiens_hsa047280.99073294
81Cardiac muscle contraction_Homo sapiens_hsa042600.98183289
82Collecting duct acid secretion_Homo sapiens_hsa049660.98177771
83Circadian entrainment_Homo sapiens_hsa047130.96149436
84Bladder cancer_Homo sapiens_hsa052190.95230982
85Glutathione metabolism_Homo sapiens_hsa004800.93538597
86Fatty acid biosynthesis_Homo sapiens_hsa000610.93105110
87Basal cell carcinoma_Homo sapiens_hsa052170.92193541
88Starch and sucrose metabolism_Homo sapiens_hsa005000.86276851
89Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.85812447
90Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.84997532
91Notch signaling pathway_Homo sapiens_hsa043300.84289518
92Calcium signaling pathway_Homo sapiens_hsa040200.84277125
93RNA polymerase_Homo sapiens_hsa030200.84095921
94Cysteine and methionine metabolism_Homo sapiens_hsa002700.84013953
95Protein digestion and absorption_Homo sapiens_hsa049740.83317547
96Alzheimers disease_Homo sapiens_hsa050100.83007807
97Arginine biosynthesis_Homo sapiens_hsa002200.82999098
98Central carbon metabolism in cancer_Homo sapiens_hsa052300.81243378
99Thyroid cancer_Homo sapiens_hsa052160.80154977
100Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.79877660
101Selenocompound metabolism_Homo sapiens_hsa004500.79643294
102Huntingtons disease_Homo sapiens_hsa050160.79154144
103Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.78312123
104Oocyte meiosis_Homo sapiens_hsa041140.78305467
105Longevity regulating pathway - mammal_Homo sapiens_hsa042110.77829076
106Asthma_Homo sapiens_hsa053100.76567483
107RNA degradation_Homo sapiens_hsa030180.76480179
108mRNA surveillance pathway_Homo sapiens_hsa030150.76360647
109Small cell lung cancer_Homo sapiens_hsa052220.75345473
110Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.74898506
1112-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.74428677
112Propanoate metabolism_Homo sapiens_hsa006400.74393018
113MicroRNAs in cancer_Homo sapiens_hsa052060.74214495
114Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.73468016
115Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.72824486
116Circadian rhythm_Homo sapiens_hsa047100.71748821
117Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.69818990
118Primary immunodeficiency_Homo sapiens_hsa053400.69793590
119Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.69629100
120Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.68046302
121Sulfur relay system_Homo sapiens_hsa041220.66504118
122Dorso-ventral axis formation_Homo sapiens_hsa043200.66039609
123Glycerolipid metabolism_Homo sapiens_hsa005610.65722566
124Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.65238713
125Type I diabetes mellitus_Homo sapiens_hsa049400.65099730
126Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.63915917
127Lysine degradation_Homo sapiens_hsa003100.63744609
128Salivary secretion_Homo sapiens_hsa049700.63241790
129ECM-receptor interaction_Homo sapiens_hsa045120.63158506
130Inositol phosphate metabolism_Homo sapiens_hsa005620.61687408
131Vascular smooth muscle contraction_Homo sapiens_hsa042700.60839734
132Lysosome_Homo sapiens_hsa041420.59967675
133Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.59237193
134Oxytocin signaling pathway_Homo sapiens_hsa049210.57590998
135beta-Alanine metabolism_Homo sapiens_hsa004100.57034063
136Graft-versus-host disease_Homo sapiens_hsa053320.56171698
137Cholinergic synapse_Homo sapiens_hsa047250.55673660
138Carbon metabolism_Homo sapiens_hsa012000.54632578
139Gastric acid secretion_Homo sapiens_hsa049710.53658422
140Histidine metabolism_Homo sapiens_hsa003400.51167952
141HIF-1 signaling pathway_Homo sapiens_hsa040660.50842467
142Basal transcription factors_Homo sapiens_hsa030220.50231027
143cAMP signaling pathway_Homo sapiens_hsa040240.49778541
144Colorectal cancer_Homo sapiens_hsa052100.46958324
145Pathways in cancer_Homo sapiens_hsa052000.46404049
146Fatty acid degradation_Homo sapiens_hsa000710.45870798
147Purine metabolism_Homo sapiens_hsa002300.45411169
148Non-homologous end-joining_Homo sapiens_hsa034500.45101961
149Allograft rejection_Homo sapiens_hsa053300.44432055
150Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.44087201
151Metabolic pathways_Homo sapiens_hsa011000.44069307
152Fatty acid metabolism_Homo sapiens_hsa012120.43849829
153Glycerophospholipid metabolism_Homo sapiens_hsa005640.41357047
154Arginine and proline metabolism_Homo sapiens_hsa003300.40942713
155Sphingolipid metabolism_Homo sapiens_hsa006000.40771812
156Hedgehog signaling pathway_Homo sapiens_hsa043400.40712507
157HTLV-I infection_Homo sapiens_hsa051660.38575631
158Pentose phosphate pathway_Homo sapiens_hsa000300.38186265
159Regulation of actin cytoskeleton_Homo sapiens_hsa048100.37677567
160Renal cell carcinoma_Homo sapiens_hsa052110.37506212
161Steroid biosynthesis_Homo sapiens_hsa001000.36702741
162Axon guidance_Homo sapiens_hsa043600.36154498
163Pyrimidine metabolism_Homo sapiens_hsa002400.34329614
164Chemical carcinogenesis_Homo sapiens_hsa052040.33525636
165Carbohydrate digestion and absorption_Homo sapiens_hsa049730.33373103
166Choline metabolism in cancer_Homo sapiens_hsa052310.33180134
167Cocaine addiction_Homo sapiens_hsa050300.32982275
168Apoptosis_Homo sapiens_hsa042100.31830329
169Rheumatoid arthritis_Homo sapiens_hsa053230.31496797
170Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.31380697
171Endometrial cancer_Homo sapiens_hsa052130.30287893
172VEGF signaling pathway_Homo sapiens_hsa043700.29972076
173AMPK signaling pathway_Homo sapiens_hsa041520.29719518
174Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.28776070

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