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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:ECE1-ECE1 (FusionGDB2 ID:24828)

Fusion Gene Summary for ECE1-ECE1

Fusion gene summary

Fusion gene information	Fusion gene name: ECE1-ECE1
	Fusion gene ID: 24828
		Hgene	Tgene
	Gene symbol	ECE1	ECE1
	Gene ID	1889	1889
	Gene name	endothelin converting enzyme 1	endothelin converting enzyme 1
	Synonyms	ECE	ECE
	Cytomap	1p36.12	1p36.12
	Type of gene	protein-coding	protein-coding
	Description	endothelin-converting enzyme 1ECE-1	endothelin-converting enzyme 1ECE-1
	Modification date	20200313	20200313
	UniProtAcc	.	P42892
	Ensembl transtripts involved in fusion gene	ENST00000415912, ENST00000357071, ENST00000374893, ENST00000436918, ENST00000264205, ENST00000528294,	ENST00000415912, ENST00000357071, ENST00000374893, ENST00000436918, ENST00000264205, ENST00000528294,
Fusion gene scores	* DoF score	16 X 15 X 9=2160	10 X 12 X 6=720
	# samples	18	14
	** MAII score	log2(18/2160*10)=-3.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(14/720*10)=-2.36257007938471 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ECE1 [Title/Abstract] AND ECE1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	ECE1(21545462)-ECE1(21544280), # samples:1 ECE1(21545686)-ECE1(21546273), # samples:1 ECE1(21554534)-ECE1(21554454), # samples:1
Anticipated loss of major functional domain due to fusion event.

* 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
Hgene	ECE1	GO:0010814	substance P catabolic process	18039931
Hgene	ECE1	GO:0010815	bradykinin catabolic process	18039931
Hgene	ECE1	GO:0010816	calcitonin catabolic process	18039931
Hgene	ECE1	GO:0016485	protein processing	7805846
Hgene	ECE1	GO:0016486	peptide hormone processing	7864876
Hgene	ECE1	GO:0034959	endothelin maturation	7805846
Hgene	ECE1	GO:0042447	hormone catabolic process	7864876
Tgene	ECE1	GO:0010814	substance P catabolic process	18039931
Tgene	ECE1	GO:0010815	bradykinin catabolic process	18039931
Tgene	ECE1	GO:0010816	calcitonin catabolic process	18039931
Tgene	ECE1	GO:0016485	protein processing	7805846
Tgene	ECE1	GO:0016486	peptide hormone processing	7864876
Tgene	ECE1	GO:0034959	endothelin maturation	7805846
Tgene	ECE1	GO:0042447	hormone catabolic process	7864876

Fusion gene breakpoints across ECE1 (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 ECE1 (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
ChiTaRS5.0	N/A	AA864426	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
ChiTaRS5.0	N/A	AI343944	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
ChiTaRS5.0	N/A	CV397322	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+

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Fusion Gene ORF analysis for ECE1-ECE1

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
intron-3UTR	ENST00000415912	ENST00000415912	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000415912	ENST00000357071	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000415912	ENST00000374893	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000415912	ENST00000436918	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000415912	ENST00000264205	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000415912	ENST00000528294	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-3UTR	ENST00000357071	ENST00000415912	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000357071	ENST00000357071	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000357071	ENST00000374893	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000357071	ENST00000436918	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000357071	ENST00000264205	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000357071	ENST00000528294	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-3UTR	ENST00000374893	ENST00000415912	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000374893	ENST00000357071	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000374893	ENST00000374893	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000374893	ENST00000436918	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000374893	ENST00000264205	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000374893	ENST00000528294	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-3UTR	ENST00000436918	ENST00000415912	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000436918	ENST00000357071	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000436918	ENST00000374893	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000436918	ENST00000436918	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000436918	ENST00000264205	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000436918	ENST00000528294	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-3UTR	ENST00000264205	ENST00000415912	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000264205	ENST00000357071	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000264205	ENST00000374893	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000264205	ENST00000436918	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000264205	ENST00000264205	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000264205	ENST00000528294	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-3UTR	ENST00000528294	ENST00000415912	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000528294	ENST00000357071	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000528294	ENST00000374893	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000528294	ENST00000436918	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000528294	ENST00000264205	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-intron	ENST00000528294	ENST00000528294	ECE1	chr1	21545462	+	ECE1	chr1	21544280	+
intron-3UTR	ENST00000415912	ENST00000415912	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-3UTR	ENST00000415912	ENST00000357071	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000415912	ENST00000374893	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000415912	ENST00000436918	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000415912	ENST00000264205	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000415912	ENST00000528294	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-3UTR	ENST00000357071	ENST00000415912	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-3UTR	ENST00000357071	ENST00000357071	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000357071	ENST00000374893	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000357071	ENST00000436918	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000357071	ENST00000264205	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000357071	ENST00000528294	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-3UTR	ENST00000374893	ENST00000415912	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-3UTR	ENST00000374893	ENST00000357071	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000374893	ENST00000374893	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000374893	ENST00000436918	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000374893	ENST00000264205	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000374893	ENST00000528294	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-3UTR	ENST00000436918	ENST00000415912	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-3UTR	ENST00000436918	ENST00000357071	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000436918	ENST00000374893	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000436918	ENST00000436918	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000436918	ENST00000264205	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000436918	ENST00000528294	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-3UTR	ENST00000264205	ENST00000415912	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-3UTR	ENST00000264205	ENST00000357071	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000264205	ENST00000374893	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000264205	ENST00000436918	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000264205	ENST00000264205	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000264205	ENST00000528294	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-3UTR	ENST00000528294	ENST00000415912	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-3UTR	ENST00000528294	ENST00000357071	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000528294	ENST00000374893	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000528294	ENST00000436918	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000528294	ENST00000264205	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-intron	ENST00000528294	ENST00000528294	ECE1	chr1	21545686	-	ECE1	chr1	21546273	-
intron-3CDS	ENST00000415912	ENST00000415912	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000415912	ENST00000357071	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000415912	ENST00000374893	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000415912	ENST00000436918	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000415912	ENST00000264205	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-intron	ENST00000415912	ENST00000528294	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000357071	ENST00000415912	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000357071	ENST00000357071	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000357071	ENST00000374893	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000357071	ENST00000436918	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000357071	ENST00000264205	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-intron	ENST00000357071	ENST00000528294	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000374893	ENST00000415912	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000374893	ENST00000357071	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000374893	ENST00000374893	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000374893	ENST00000436918	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000374893	ENST00000264205	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-intron	ENST00000374893	ENST00000528294	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000436918	ENST00000415912	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000436918	ENST00000357071	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000436918	ENST00000374893	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000436918	ENST00000436918	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000436918	ENST00000264205	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-intron	ENST00000436918	ENST00000528294	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000264205	ENST00000415912	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000264205	ENST00000357071	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000264205	ENST00000374893	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000264205	ENST00000436918	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000264205	ENST00000264205	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-intron	ENST00000264205	ENST00000528294	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000528294	ENST00000415912	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000528294	ENST00000357071	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000528294	ENST00000374893	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000528294	ENST00000436918	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-3CDS	ENST00000528294	ENST00000264205	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+
intron-intron	ENST00000528294	ENST00000528294	ECE1	chr1	21554534	-	ECE1	chr1	21554454	+

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 ECE1-ECE1

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)

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 ECE1-ECE1

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
.	ECE1 P42892
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: Converts big endothelin-1 to endothelin-1. {ECO:0000269\|PubMed:9396733}.

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 ECE1-ECE1

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 ECE1-ECE1

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 ECE1-ECE1

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 ECE1-ECE1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	ECE1	C0018798	Congenital Heart Defects	2	CTD_human
Hgene	ECE1	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	1	CTD_human
Hgene	ECE1	C0019569	Hirschsprung Disease	1	CTD_human
Hgene	ECE1	C0020538	Hypertensive disease	1	CTD_human
Hgene	ECE1	C0085758	Aganglionosis, Colonic	1	CTD_human
Hgene	ECE1	C0376634	Craniofacial Abnormalities	1	CTD_human
Hgene	ECE1	C0393912	Segmental Autonomic Dysfunction	1	CTD_human
Hgene	ECE1	C0750944	Peripheral Autonomic Nervous System Diseases	1	CTD_human
Hgene	ECE1	C0750945	Nervous System Diseases, Parasympathetic	1	CTD_human
Hgene	ECE1	C0750946	Nervous System Diseases, Sympathetic	1	CTD_human
Hgene	ECE1	C1145628	Autonomic nervous system disorders	1	CTD_human
Hgene	ECE1	C1257840	Aganglionosis, Rectosigmoid Colon	1	CTD_human
Hgene	ECE1	C3151237	Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction	1	CTD_human;GENOMICS_ENGLAND;UNIPROT
Hgene	ECE1	C3661523	Congenital Intestinal Aganglionosis	1	CTD_human
Tgene	ECE1	C0018798	Congenital Heart Defects	2	CTD_human
Tgene	ECE1	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	1	CTD_human
Tgene	ECE1	C0019569	Hirschsprung Disease	1	CTD_human
Tgene	ECE1	C0020538	Hypertensive disease	1	CTD_human
Tgene	ECE1	C0085758	Aganglionosis, Colonic	1	CTD_human
Tgene	ECE1	C0376634	Craniofacial Abnormalities	1	CTD_human
Tgene	ECE1	C0393912	Segmental Autonomic Dysfunction	1	CTD_human
Tgene	ECE1	C0750944	Peripheral Autonomic Nervous System Diseases	1	CTD_human
Tgene	ECE1	C0750945	Nervous System Diseases, Parasympathetic	1	CTD_human
Tgene	ECE1	C0750946	Nervous System Diseases, Sympathetic	1	CTD_human
Tgene	ECE1	C1145628	Autonomic nervous system disorders	1	CTD_human
Tgene	ECE1	C1257840	Aganglionosis, Rectosigmoid Colon	1	CTD_human
Tgene	ECE1	C3151237	Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction	1	CTD_human;GENOMICS_ENGLAND;UNIPROT
Tgene	ECE1	C3661523	Congenital Intestinal Aganglionosis	1	CTD_human