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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:PAPLN-PSEN1 (FusionGDB2 ID:62202)

Fusion Gene Summary for PAPLN-PSEN1

Fusion gene summary

Fusion gene information	Fusion gene name: PAPLN-PSEN1
	Fusion gene ID: 62202
		Hgene	Tgene
	Gene symbol	PAPLN	PSEN1
	Gene ID	89932	5663
	Gene name	papilin, proteoglycan like sulfated glycoprotein	presenilin 1
	Synonyms	PPN	ACNINV3\|AD3\|FAD\|PS-1\|PS1\|S182
	Cytomap	14q24.2	14q24.2
	Type of gene	protein-coding	protein-coding
	Description	papilin	presenilin-1presenilin-1 isoform I-467
	Modification date	20200313	20200329
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000381166, ENST00000427855, ENST00000340738, ENST00000554301, ENST00000555445, ENST00000554314,	ENST00000357710, ENST00000324501, ENST00000344094, ENST00000261970, ENST00000394164, ENST00000557511, ENST00000406768, ENST00000394157, ENST00000553447,
Fusion gene scores	* DoF score	7 X 9 X 6=378	3 X 4 X 4=48
	# samples	10	4
	** MAII score	log2(10/378*10)=-1.91838623444635 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: PAPLN [Title/Abstract] AND PSEN1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	PAPLN(73704300)-PSEN1(73673094), # samples:1 PAPLN(73732215)-PSEN1(73653561), # samples:1
Anticipated loss of major functional domain due to fusion event.	PAPLN-PSEN1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Tgene	PSEN1	GO:0006509	membrane protein ectodomain proteolysis	15274632
Tgene	PSEN1	GO:0016485	protein processing	15274632
Tgene	PSEN1	GO:0032469	endoplasmic reticulum calcium ion homeostasis	17431506
Tgene	PSEN1	GO:0042325	regulation of phosphorylation	9689133
Tgene	PSEN1	GO:0042982	amyloid precursor protein metabolic process	26280335
Tgene	PSEN1	GO:0043066	negative regulation of apoptotic process	10805794
Tgene	PSEN1	GO:0043085	positive regulation of catalytic activity	15274632

Fusion gene breakpoints across PAPLN (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across PSEN1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	KIRC	TCGA-B2-5641-01A	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
ChimerDB4	UCEC	TCGA-KP-A3W4-01A	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+

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Fusion Gene ORF analysis for PAPLN-PSEN1

Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5UTR-3CDS	ENST00000381166	ENST00000357710	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-3CDS	ENST00000381166	ENST00000324501	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-3CDS	ENST00000381166	ENST00000344094	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-3CDS	ENST00000381166	ENST00000261970	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-3CDS	ENST00000381166	ENST00000394164	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-3CDS	ENST00000381166	ENST00000557511	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-3CDS	ENST00000381166	ENST00000406768	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-intron	ENST00000381166	ENST00000394157	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-intron	ENST00000381166	ENST00000553447	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-3CDS	ENST00000427855	ENST00000357710	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-3CDS	ENST00000427855	ENST00000324501	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-3CDS	ENST00000427855	ENST00000344094	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-3CDS	ENST00000427855	ENST00000261970	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-3CDS	ENST00000427855	ENST00000394164	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-3CDS	ENST00000427855	ENST00000557511	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-3CDS	ENST00000427855	ENST00000406768	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-intron	ENST00000427855	ENST00000394157	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-intron	ENST00000427855	ENST00000553447	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-3CDS	ENST00000340738	ENST00000357710	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-3CDS	ENST00000340738	ENST00000324501	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-3CDS	ENST00000340738	ENST00000344094	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-3CDS	ENST00000340738	ENST00000261970	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-3CDS	ENST00000340738	ENST00000394164	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-3CDS	ENST00000340738	ENST00000557511	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-3CDS	ENST00000340738	ENST00000406768	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-intron	ENST00000340738	ENST00000394157	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
5UTR-intron	ENST00000340738	ENST00000553447	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-3CDS	ENST00000554301	ENST00000357710	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-3CDS	ENST00000554301	ENST00000324501	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-3CDS	ENST00000554301	ENST00000344094	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-3CDS	ENST00000554301	ENST00000261970	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-3CDS	ENST00000554301	ENST00000394164	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-3CDS	ENST00000554301	ENST00000557511	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-3CDS	ENST00000554301	ENST00000406768	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-intron	ENST00000554301	ENST00000394157	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-intron	ENST00000554301	ENST00000553447	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-3CDS	ENST00000555445	ENST00000357710	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-3CDS	ENST00000555445	ENST00000324501	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-3CDS	ENST00000555445	ENST00000344094	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-3CDS	ENST00000555445	ENST00000261970	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-3CDS	ENST00000555445	ENST00000394164	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-3CDS	ENST00000555445	ENST00000557511	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-3CDS	ENST00000555445	ENST00000406768	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-intron	ENST00000555445	ENST00000394157	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-intron	ENST00000555445	ENST00000553447	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-3CDS	ENST00000554314	ENST00000357710	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-3CDS	ENST00000554314	ENST00000324501	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-3CDS	ENST00000554314	ENST00000344094	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-3CDS	ENST00000554314	ENST00000261970	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-3CDS	ENST00000554314	ENST00000394164	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-3CDS	ENST00000554314	ENST00000557511	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-3CDS	ENST00000554314	ENST00000406768	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-intron	ENST00000554314	ENST00000394157	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
intron-intron	ENST00000554314	ENST00000553447	PAPLN	chr14	73704300	+	PSEN1	chr14	73673094	+
Frame-shift	ENST00000381166	ENST00000357710	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000381166	ENST00000324501	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000381166	ENST00000344094	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000381166	ENST00000261970	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000381166	ENST00000394164	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000381166	ENST00000557511	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000381166	ENST00000406768	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
5CDS-intron	ENST00000381166	ENST00000394157	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
5CDS-intron	ENST00000381166	ENST00000553447	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000427855	ENST00000357710	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000427855	ENST00000324501	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000427855	ENST00000344094	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000427855	ENST00000261970	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000427855	ENST00000394164	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000427855	ENST00000557511	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000427855	ENST00000406768	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
5CDS-intron	ENST00000427855	ENST00000394157	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
5CDS-intron	ENST00000427855	ENST00000553447	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000340738	ENST00000357710	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000340738	ENST00000324501	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000340738	ENST00000344094	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000340738	ENST00000261970	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000340738	ENST00000394164	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000340738	ENST00000557511	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000340738	ENST00000406768	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
5CDS-intron	ENST00000340738	ENST00000394157	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
5CDS-intron	ENST00000340738	ENST00000553447	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000554301	ENST00000357710	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000554301	ENST00000324501	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000554301	ENST00000344094	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000554301	ENST00000261970	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000554301	ENST00000394164	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000554301	ENST00000557511	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000554301	ENST00000406768	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
5CDS-intron	ENST00000554301	ENST00000394157	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
5CDS-intron	ENST00000554301	ENST00000553447	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000555445	ENST00000357710	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000555445	ENST00000324501	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000555445	ENST00000344094	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000555445	ENST00000261970	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000555445	ENST00000394164	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000555445	ENST00000557511	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
Frame-shift	ENST00000555445	ENST00000406768	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
5CDS-intron	ENST00000555445	ENST00000394157	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
5CDS-intron	ENST00000555445	ENST00000553447	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
intron-3CDS	ENST00000554314	ENST00000357710	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
intron-3CDS	ENST00000554314	ENST00000324501	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
intron-3CDS	ENST00000554314	ENST00000344094	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
intron-3CDS	ENST00000554314	ENST00000261970	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
intron-3CDS	ENST00000554314	ENST00000394164	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
intron-3CDS	ENST00000554314	ENST00000557511	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
intron-3CDS	ENST00000554314	ENST00000406768	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
intron-intron	ENST00000554314	ENST00000394157	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+
intron-intron	ENST00000554314	ENST00000553447	PAPLN	chr14	73732215	+	PSEN1	chr14	73653561	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for PAPLN-PSEN1

FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
PAPLN	chr14	73732215	+	PSEN1	chr14	73653560	+	0.80233794	0.19766206
PAPLN	chr14	73704300	+	PSEN1	chr14	73673093	+	0.024197496	0.9758025
PAPLN	chr14	73732215	+	PSEN1	chr14	73653560	+	0.80233794	0.19766206
PAPLN	chr14	73704300	+	PSEN1	chr14	73673093	+	0.024197496	0.9758025

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for PAPLN-PSEN1

Go to
FGviewer for the breakpoints of :-:
.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	.
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.	FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at
download page

* Minus value of BPloci means that the break pointn is located before the CDS.

- In-frame and retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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Fusion Gene Sequence for PAPLN-PSEN1

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for PAPLN-PSEN1

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for PAPLN-PSEN1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for PAPLN-PSEN1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	PSEN1	C1843013	Alzheimer disease, familial, type 3	84	GENOMICS_ENGLAND;UNIPROT
Tgene	PSEN1	C0002395	Alzheimer's Disease	13	CTD_human
Tgene	PSEN1	C0011265	Presenile dementia	13	CTD_human
Tgene	PSEN1	C0276496	Familial Alzheimer Disease (FAD)	13	CTD_human
Tgene	PSEN1	C0494463	Alzheimer Disease, Late Onset	13	CTD_human
Tgene	PSEN1	C0546126	Acute Confusional Senile Dementia	13	CTD_human
Tgene	PSEN1	C0750900	Alzheimer's Disease, Focal Onset	13	CTD_human
Tgene	PSEN1	C0750901	Alzheimer Disease, Early Onset	13	CTD_human
Tgene	PSEN1	C0236642	Pick Disease of the Brain	6	CTD_human;GENOMICS_ENGLAND;UNIPROT
Tgene	PSEN1	C0011570	Mental Depression	5	PSYGENET
Tgene	PSEN1	C0011581	Depressive disorder	5	PSYGENET
Tgene	PSEN1	C0338451	Frontotemporal dementia	5	CTD_human;GENOMICS_ENGLAND;UNIPROT
Tgene	PSEN1	C3160720	Cardiomyopathy, Dilated, 1u	5	CTD_human;GENOMICS_ENGLAND;UNIPROT
Tgene	PSEN1	C3151038	ACNE INVERSA, FAMILIAL, 3	3	GENOMICS_ENGLAND
Tgene	PSEN1	C0013421	Dystonia	2	GENOMICS_ENGLAND
Tgene	PSEN1	C0025261	Memory Disorders	2	CTD_human
Tgene	PSEN1	C0233794	Memory impairment	2	CTD_human
Tgene	PSEN1	C0751292	Age-Related Memory Disorders	2	CTD_human
Tgene	PSEN1	C0751293	Memory Disorder, Semantic	2	CTD_human
Tgene	PSEN1	C0751294	Memory Disorder, Spatial	2	CTD_human
Tgene	PSEN1	C0751295	Memory Loss	2	CTD_human
Tgene	PSEN1	C0002726	Amyloidosis	1	CTD_human
Tgene	PSEN1	C0004045	Asphyxia Neonatorum	1	CTD_human
Tgene	PSEN1	C0007193	Cardiomyopathy, Dilated	1	CTD_human
Tgene	PSEN1	C0009241	Cognition Disorders	1	CTD_human
Tgene	PSEN1	C0023186	Learning Disorders	1	CTD_human
Tgene	PSEN1	C0027746	Nerve Degeneration	1	CTD_human
Tgene	PSEN1	C0033141	Cardiomyopathies, Primary	1	CTD_human
Tgene	PSEN1	C0036529	Myocardial Diseases, Secondary	1	CTD_human
Tgene	PSEN1	C0038002	Splenomegaly	1	CTD_human
Tgene	PSEN1	C0270715	Degenerative Diseases, Central Nervous System	1	CTD_human
Tgene	PSEN1	C0338462	Semantic Dementia	1	CTD_human;ORPHANET
Tgene	PSEN1	C0340427	Familial dilated cardiomyopathy	1	ORPHANET
Tgene	PSEN1	C0524851	Neurodegenerative Disorders	1	CTD_human
Tgene	PSEN1	C0751262	Adult Learning Disorders	1	CTD_human
Tgene	PSEN1	C0751263	Learning Disturbance	1	CTD_human
Tgene	PSEN1	C0751265	Learning Disabilities	1	CTD_human
Tgene	PSEN1	C0751706	Primary Progressive Nonfluent Aphasia	1	ORPHANET
Tgene	PSEN1	C0751733	Degenerative Diseases, Spinal Cord	1	CTD_human
Tgene	PSEN1	C0878544	Cardiomyopathies	1	CTD_human
Tgene	PSEN1	C1330966	Developmental Academic Disorder	1	CTD_human
Tgene	PSEN1	C1449563	Cardiomyopathy, Familial Idiopathic	1	CTD_human
Tgene	PSEN1	C1840560	Hidradenitis suppurativa, familial	1	CTD_human
Tgene	PSEN1	C4011788	Behavioral variant of frontotemporal dementia	1	ORPHANET