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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for PRICKLE1

check button Gene summary
Gene informationGene symbol

PRICKLE1

Gene ID

144165

Gene nameprickle planar cell polarity protein 1
SynonymsEPM1B|RILP
Cytomap

12q12

Type of geneprotein-coding
Descriptionprickle-like protein 1REST (RE-1 silencing transcription factor)/NRSF (neuron-restrictive silencer factor)-interacting LIM domain proteinREST/NRSF interacting LIM domain proteinREST/NRSF-interacting LIM domain protein 1prickle homolog 1prickle-like 1
Modification date20200313
UniProtAcc

A0A024R0W7,

A0A1W2PPC7,

F8VUG8,

F8W1J1,

F8W1Q8,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
PRICKLE1

GO:0006606

protein import into nucleus

21199191

PRICKLE1

GO:0031398

positive regulation of protein ubiquitination

17030191

PRICKLE1

GO:0032436

positive regulation of proteasomal ubiquitin-dependent protein catabolic process

17030191

PRICKLE1

GO:0045892

negative regulation of transcription, DNA-templated

17030191

PRICKLE1

GO:0090090

negative regulation of canonical Wnt signaling pathway

17030191

PRICKLE1

GO:2000691

negative regulation of cardiac muscle cell myoblast differentiation

21199191


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Gene structures and expression levels for PRICKLE1

check buttonSkipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

ENSG00000139174
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
TCUPENST00000455697.6PRICKLE1-203:protein_coding:PRICKLE13.586096e+019.344324e-018.538560e-034.989423e-02

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PRICKLE1

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_108701chr1242466194:42466380:42468626:42468829:42469450:4246958742468626:42468829
exon_skip_108888chr1242472385:42472564:42550208:42550329:42589465:4258974642550208:42550329
exon_skip_62193chr1242472385:42472564:42483758:42483985:42484274:4248429842483758:42483985

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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Open reading frame (ORF) annotation in the exon skipping event for PRICKLE1

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000045569742483758424839853UTR-3UTR

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000045569742483758424839853UTR-3UTR
ENST000003451274246862642468829In-frame
ENST000004457664246862642468829In-frame
ENST000004556974246862642468829In-frame
ENST000005486964246862642468829In-frame
ENST000005522404246862642468829In-frame
ENST000006395664246862642468829In-frame
ENST000006395894246862642468829In-frame
ENST000006400554246862642468829In-frame
ENST000006401324246862642468829In-frame

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000045569742483758424839853UTR-3UTR
ENST000003451274246862642468829In-frame
ENST000004457664246862642468829In-frame
ENST000004556974246862642468829In-frame
ENST000005486964246862642468829In-frame
ENST000005522404246862642468829In-frame
ENST000006395664246862642468829In-frame
ENST000006395894246862642468829In-frame
ENST000006400554246862642468829In-frame
ENST000006401324246862642468829In-frame

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Infer the effects of exon skipping event on protein functional features for PRICKLE1

p-ENSG00000139174_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000034512759198314246862642468829739941128195
ENST0000044576640928314246862642468829515717128195
ENST0000045569742948314246862642468829729931128195
ENST0000054869636528314246862642468829666868128195
ENST0000055224033288314246862642468829671873128195
ENST0000063956633588314246862642468829686888128195
ENST0000063958957788314246862642468829604806128195
ENST0000064005537958314246862642468829683885128195
ENST0000064013242958314246862642468829730932128195

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000034512759198314246862642468829739941128195
ENST0000044576640928314246862642468829515717128195
ENST0000045569742948314246862642468829729931128195
ENST0000054869636528314246862642468829666868128195
ENST0000055224033288314246862642468829671873128195
ENST0000063956633588314246862642468829686888128195
ENST0000063958957788314246862642468829604806128195
ENST0000064005537958314246862642468829683885128195
ENST0000064013242958314246862642468829730932128195

check button Lost protein functional features of individual exon skipping events in ROSMAP.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature

check button Lost protein functional features of individual exon skipping events in MSBB.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q96MT31281951828ChainID=PRO_0000075889;Note=Prickle-like protein 1
Q96MT31281951828ChainID=PRO_0000075889;Note=Prickle-like protein 1
Q96MT31281951828ChainID=PRO_0000075889;Note=Prickle-like protein 1
Q96MT31281951828ChainID=PRO_0000075889;Note=Prickle-like protein 1
Q96MT31281951828ChainID=PRO_0000075889;Note=Prickle-like protein 1
Q96MT31281951828ChainID=PRO_0000075889;Note=Prickle-like protein 1
Q96MT31281951828ChainID=PRO_0000075889;Note=Prickle-like protein 1
Q96MT31281951828ChainID=PRO_0000075889;Note=Prickle-like protein 1
Q96MT31281951828ChainID=PRO_0000075889;Note=Prickle-like protein 1
Q96MT3128195124189DomainNote=LIM zinc-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195124189DomainNote=LIM zinc-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195124189DomainNote=LIM zinc-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195124189DomainNote=LIM zinc-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195124189DomainNote=LIM zinc-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195124189DomainNote=LIM zinc-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195124189DomainNote=LIM zinc-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195124189DomainNote=LIM zinc-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195124189DomainNote=LIM zinc-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195189249DomainNote=LIM zinc-binding 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195189249DomainNote=LIM zinc-binding 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195189249DomainNote=LIM zinc-binding 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195189249DomainNote=LIM zinc-binding 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195189249DomainNote=LIM zinc-binding 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195189249DomainNote=LIM zinc-binding 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195189249DomainNote=LIM zinc-binding 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195189249DomainNote=LIM zinc-binding 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195189249DomainNote=LIM zinc-binding 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195144144Natural variantID=VAR_065580;Note=In EPM1B. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21276947;Dbxref=dbSNP:rs281865563,PMID:21276947
Q96MT3128195144144Natural variantID=VAR_065580;Note=In EPM1B. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21276947;Dbxref=dbSNP:rs281865563,PMID:21276947
Q96MT3128195144144Natural variantID=VAR_065580;Note=In EPM1B. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21276947;Dbxref=dbSNP:rs281865563,PMID:21276947
Q96MT3128195144144Natural variantID=VAR_065580;Note=In EPM1B. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21276947;Dbxref=dbSNP:rs281865563,PMID:21276947
Q96MT3128195144144Natural variantID=VAR_065580;Note=In EPM1B. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21276947;Dbxref=dbSNP:rs281865563,PMID:21276947
Q96MT3128195144144Natural variantID=VAR_065580;Note=In EPM1B. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21276947;Dbxref=dbSNP:rs281865563,PMID:21276947
Q96MT3128195144144Natural variantID=VAR_065580;Note=In EPM1B. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21276947;Dbxref=dbSNP:rs281865563,PMID:21276947
Q96MT3128195144144Natural variantID=VAR_065580;Note=In EPM1B. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21276947;Dbxref=dbSNP:rs281865563,PMID:21276947
Q96MT3128195144144Natural variantID=VAR_065580;Note=In EPM1B. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21276947;Dbxref=dbSNP:rs281865563,PMID:21276947

check button Lost protein functional features of individual exon skipping events in Mayo.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q96MT31281951828ChainID=PRO_0000075889;Note=Prickle-like protein 1
Q96MT31281951828ChainID=PRO_0000075889;Note=Prickle-like protein 1
Q96MT31281951828ChainID=PRO_0000075889;Note=Prickle-like protein 1
Q96MT31281951828ChainID=PRO_0000075889;Note=Prickle-like protein 1
Q96MT31281951828ChainID=PRO_0000075889;Note=Prickle-like protein 1
Q96MT31281951828ChainID=PRO_0000075889;Note=Prickle-like protein 1
Q96MT31281951828ChainID=PRO_0000075889;Note=Prickle-like protein 1
Q96MT31281951828ChainID=PRO_0000075889;Note=Prickle-like protein 1
Q96MT31281951828ChainID=PRO_0000075889;Note=Prickle-like protein 1
Q96MT3128195124189DomainNote=LIM zinc-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195124189DomainNote=LIM zinc-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195124189DomainNote=LIM zinc-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195124189DomainNote=LIM zinc-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195124189DomainNote=LIM zinc-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195124189DomainNote=LIM zinc-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195124189DomainNote=LIM zinc-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195124189DomainNote=LIM zinc-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195124189DomainNote=LIM zinc-binding 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195189249DomainNote=LIM zinc-binding 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195189249DomainNote=LIM zinc-binding 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195189249DomainNote=LIM zinc-binding 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195189249DomainNote=LIM zinc-binding 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195189249DomainNote=LIM zinc-binding 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195189249DomainNote=LIM zinc-binding 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195189249DomainNote=LIM zinc-binding 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195189249DomainNote=LIM zinc-binding 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195189249DomainNote=LIM zinc-binding 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00125
Q96MT3128195144144Natural variantID=VAR_065580;Note=In EPM1B. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21276947;Dbxref=dbSNP:rs281865563,PMID:21276947
Q96MT3128195144144Natural variantID=VAR_065580;Note=In EPM1B. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21276947;Dbxref=dbSNP:rs281865563,PMID:21276947
Q96MT3128195144144Natural variantID=VAR_065580;Note=In EPM1B. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21276947;Dbxref=dbSNP:rs281865563,PMID:21276947
Q96MT3128195144144Natural variantID=VAR_065580;Note=In EPM1B. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21276947;Dbxref=dbSNP:rs281865563,PMID:21276947
Q96MT3128195144144Natural variantID=VAR_065580;Note=In EPM1B. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21276947;Dbxref=dbSNP:rs281865563,PMID:21276947
Q96MT3128195144144Natural variantID=VAR_065580;Note=In EPM1B. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21276947;Dbxref=dbSNP:rs281865563,PMID:21276947
Q96MT3128195144144Natural variantID=VAR_065580;Note=In EPM1B. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21276947;Dbxref=dbSNP:rs281865563,PMID:21276947
Q96MT3128195144144Natural variantID=VAR_065580;Note=In EPM1B. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21276947;Dbxref=dbSNP:rs281865563,PMID:21276947
Q96MT3128195144144Natural variantID=VAR_065580;Note=In EPM1B. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21276947;Dbxref=dbSNP:rs281865563,PMID:21276947


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3'-UTR located exon skipping events that lost miRNA binding sites in PRICKLE1

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda
MayoENST000004556974248375842483985hsa-miR-4654chr12:42483787-424837948mer-1achr12:42483787-42483806166.00-29.56
MayoENST000004556974248375842483985hsa-miR-7154-3pchr12:42483799-424838068mer-1achr12:42483787-42483806166.00-29.56
MayoENST000004556974248375842483985hsa-miR-629-3pchr12:42483933-424839408mer-1achr12:42483931-42483953150.00-20.63
MayoENST000004556974248375842483985hsa-miR-4533chr12:42483910-424839178mer-1achr12:42483904-42483925147.00-35.85
MayoENST000004556974248375842483985hsa-miR-1275chr12:42483888-424838958mer-1achr12:42483887-42483909156.00-38.71
MayoENST000004556974248375842483985hsa-miR-4665-5pchr12:42483888-424838958mer-1achr12:42483887-42483909156.00-38.71
MayoENST000004556974248375842483985hsa-miR-4769-5pchr12:42483787-424837948mer-1achr12:42483787-42483806166.00-29.56
MSBBENST000004556974248375842483985hsa-miR-4654chr12:42483787-424837948mer-1achr12:42483787-42483806166.00-29.56
MSBBENST000004556974248375842483985hsa-miR-7154-3pchr12:42483799-424838068mer-1achr12:42483787-42483806166.00-29.56
MSBBENST000004556974248375842483985hsa-miR-629-3pchr12:42483933-424839408mer-1achr12:42483931-42483953150.00-20.63
MSBBENST000004556974248375842483985hsa-miR-4533chr12:42483910-424839178mer-1achr12:42483904-42483925147.00-35.85
MSBBENST000004556974248375842483985hsa-miR-1275chr12:42483888-424838958mer-1achr12:42483887-42483909156.00-38.71
MSBBENST000004556974248375842483985hsa-miR-4665-5pchr12:42483888-424838958mer-1achr12:42483887-42483909156.00-38.71
MSBBENST000004556974248375842483985hsa-miR-4769-5pchr12:42483787-424837948mer-1achr12:42483787-42483806166.00-29.56
ROSMAPENST000004556974248375842483985hsa-miR-4654chr12:42483787-424837948mer-1achr12:42483787-42483806166.00-29.56
ROSMAPENST000004556974248375842483985hsa-miR-7154-3pchr12:42483799-424838068mer-1achr12:42483787-42483806166.00-29.56
ROSMAPENST000004556974248375842483985hsa-miR-629-3pchr12:42483933-424839408mer-1achr12:42483931-42483953150.00-20.63
ROSMAPENST000004556974248375842483985hsa-miR-4533chr12:42483910-424839178mer-1achr12:42483904-42483925147.00-35.85
ROSMAPENST000004556974248375842483985hsa-miR-1275chr12:42483888-424838958mer-1achr12:42483887-42483909156.00-38.71
ROSMAPENST000004556974248375842483985hsa-miR-4665-5pchr12:42483888-424838958mer-1achr12:42483887-42483909156.00-38.71
ROSMAPENST000004556974248375842483985hsa-miR-4769-5pchr12:42483787-424837948mer-1achr12:42483787-42483806166.00-29.56

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SNVs in the skipped exons for PRICKLE1

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for PRICKLE1

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PRICKLE1

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for PRICKLE1

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value

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RelatedDrugs for PRICKLE1

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for PRICKLE1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource