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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:TTN-TTN (FusionGDB2 ID:94563)

Fusion Gene Summary for TTN-TTN

check button Fusion gene summary
Fusion gene informationFusion gene name: TTN-TTN
Fusion gene ID: 94563
HgeneTgene
Gene symbol

TTN

TTN

Gene ID

7273

7273

Gene nametitintitin
SynonymsCMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|LGMDR10|MYLK5|SALMY|TMDCMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|LGMDR10|MYLK5|SALMY|TMD
Cytomap

2q31.2

2q31.2

Type of geneprotein-codingprotein-coding
Descriptiontitinconnectinrhabdomyosarcoma antigen MU-RMS-40.14titinconnectinrhabdomyosarcoma antigen MU-RMS-40.14
Modification date2020032820200328
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000342992, ENST00000460472, 
ENST00000589042, ENST00000342175, 
ENST00000359218, ENST00000591111, 
ENST00000360870, 
ENST00000342992, 
ENST00000460472, ENST00000589042, 
ENST00000342175, ENST00000359218, 
ENST00000591111, ENST00000360870, 
Fusion gene scores* DoF score16 X 18 X 6=17287 X 8 X 4=224
# samples 188
** MAII scorelog2(18/1728*10)=-3.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TTN [Title/Abstract] AND TTN [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTTN(179612128)-TTN(179610700), # samples:1
TTN(179569672)-TTN(179569323), # 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneTTN

GO:0035995

detection of muscle stretch

18765796

HgeneTTN

GO:0051592

response to calcium ion

7607248

TgeneTTN

GO:0035995

detection of muscle stretch

18765796

TgeneTTN

GO:0051592

response to calcium ion

7607248


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

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

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/ABF824891TTNchr2

179612128

-TTNchr2

179610700

+
ChiTaRS5.0N/AF00774TTNchr2

179569672

+TTNchr2

179569323

-


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Fusion Gene ORF analysis for TTN-TTN

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000342992ENST00000342992TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000342992ENST00000460472TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000342992ENST00000589042TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000342992ENST00000342175TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000342992ENST00000359218TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000342992ENST00000591111TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000342992ENST00000360870TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000460472ENST00000342992TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000460472ENST00000460472TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000460472ENST00000589042TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000460472ENST00000342175TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000460472ENST00000359218TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000460472ENST00000591111TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000460472ENST00000360870TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000589042ENST00000342992TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000589042ENST00000460472TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000589042ENST00000589042TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000589042ENST00000342175TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000589042ENST00000359218TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000589042ENST00000591111TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000589042ENST00000360870TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000342175ENST00000342992TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000342175ENST00000460472TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000342175ENST00000589042TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000342175ENST00000342175TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000342175ENST00000359218TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000342175ENST00000591111TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000342175ENST00000360870TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000359218ENST00000342992TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000359218ENST00000460472TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000359218ENST00000589042TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000359218ENST00000342175TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000359218ENST00000359218TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000359218ENST00000591111TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000359218ENST00000360870TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000591111ENST00000342992TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000591111ENST00000460472TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000591111ENST00000589042TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000591111ENST00000342175TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000591111ENST00000359218TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000591111ENST00000591111TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000591111ENST00000360870TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000360870ENST00000342992TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000360870ENST00000460472TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000360870ENST00000589042TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000360870ENST00000342175TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000360870ENST00000359218TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000360870ENST00000591111TTNchr2

179612128

-TTNchr2

179610700

+
intron-intronENST00000360870ENST00000360870TTNchr2

179612128

-TTNchr2

179610700

+
intron-3CDSENST00000342992ENST00000342992TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000342992ENST00000460472TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000342992ENST00000589042TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000342992ENST00000342175TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000342992ENST00000359218TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000342992ENST00000591111TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000342992ENST00000360870TTNchr2

179569672

+TTNchr2

179569323

-
intron-3CDSENST00000460472ENST00000342992TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000460472ENST00000460472TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000460472ENST00000589042TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000460472ENST00000342175TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000460472ENST00000359218TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000460472ENST00000591111TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000460472ENST00000360870TTNchr2

179569672

+TTNchr2

179569323

-
intron-3CDSENST00000589042ENST00000342992TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000589042ENST00000460472TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000589042ENST00000589042TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000589042ENST00000342175TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000589042ENST00000359218TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000589042ENST00000591111TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000589042ENST00000360870TTNchr2

179569672

+TTNchr2

179569323

-
intron-3CDSENST00000342175ENST00000342992TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000342175ENST00000460472TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000342175ENST00000589042TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000342175ENST00000342175TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000342175ENST00000359218TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000342175ENST00000591111TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000342175ENST00000360870TTNchr2

179569672

+TTNchr2

179569323

-
intron-3CDSENST00000359218ENST00000342992TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000359218ENST00000460472TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000359218ENST00000589042TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000359218ENST00000342175TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000359218ENST00000359218TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000359218ENST00000591111TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000359218ENST00000360870TTNchr2

179569672

+TTNchr2

179569323

-
intron-3CDSENST00000591111ENST00000342992TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000591111ENST00000460472TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000591111ENST00000589042TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000591111ENST00000342175TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000591111ENST00000359218TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000591111ENST00000591111TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000591111ENST00000360870TTNchr2

179569672

+TTNchr2

179569323

-
intron-3CDSENST00000360870ENST00000342992TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000360870ENST00000460472TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000360870ENST00000589042TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000360870ENST00000342175TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000360870ENST00000359218TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000360870ENST00000591111TTNchr2

179569672

+TTNchr2

179569323

-
intron-intronENST00000360870ENST00000360870TTNchr2

179569672

+TTNchr2

179569323

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for TTN-TTN


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution 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.

check buttonDistribution 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 TTN-TTN


check button 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
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.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for TTN-TTN


check button 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 TTN-TTN


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for TTN-TTN


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for TTN-TTN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTTNC0007194Hypertrophic Cardiomyopathy9CLINGEN
HgeneTTNC1858763Cardiomyopathy, Dilated, 1g7CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneTTNC1861065CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 95CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneTTNC1863599Hereditary Myopathy with Early Respiratory Failure5CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneTTNC2673677Myopathy, Early-Onset, with Fatal Cardiomyopathy5CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneTTNC0007193Cardiomyopathy, Dilated4CTD_human;GENOMICS_ENGLAND
HgeneTTNC1838244TIBIAL MUSCULAR DYSTROPHY, TARDIVE4CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneTTNC1449563Cardiomyopathy, Familial Idiopathic3CTD_human
HgeneTTNC1837342MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J3CTD_human;GENOMICS_ENGLAND
HgeneTTNC0004238Atrial Fibrillation2CTD_human
HgeneTTNC0235480Paroxysmal atrial fibrillation2CTD_human
HgeneTTNC0751336Distal Muscular Dystrophies2CTD_human;GENOMICS_ENGLAND
HgeneTTNC2585653Persistent atrial fibrillation2CTD_human
HgeneTTNC3468561familial atrial fibrillation2CTD_human
HgeneTTNC0003886Arthrogryposis1GENOMICS_ENGLAND
HgeneTTNC0026848Myopathy1CTD_human
HgeneTTNC0151786Muscle Weakness1CTD_human
HgeneTTNC0221054Welander Distal Myopathy1CTD_human
HgeneTTNC0270960Congenital myopathy (disorder)1GENOMICS_ENGLAND
HgeneTTNC0340427Familial dilated cardiomyopathy1CTD_human;ORPHANET
HgeneTTNC0410204Myopathy, Centronuclear, Autosomal Recessive1ORPHANET
HgeneTTNC0686353Muscular Dystrophies, Limb-Girdle1GENOMICS_ENGLAND
HgeneTTNC1450052Tibial Muscular Dystrophy1CTD_human
HgeneTTNC1832931ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 21ORPHANET
HgeneTTNC1843687ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)1ORPHANET
HgeneTTNC2678065Myofibrillar Myopathy1GENOMICS_ENGLAND
HgeneTTNC3645536Autosomal Recessive Centronuclear Myopathy1ORPHANET
HgeneTTNC4552004Distal Myopathy 11CTD_human
TgeneTTNC0007194Hypertrophic Cardiomyopathy9CLINGEN
TgeneTTNC1858763Cardiomyopathy, Dilated, 1g7CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneTTNC1861065CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 95CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneTTNC1863599Hereditary Myopathy with Early Respiratory Failure5CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneTTNC2673677Myopathy, Early-Onset, with Fatal Cardiomyopathy5CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneTTNC0007193Cardiomyopathy, Dilated4CTD_human;GENOMICS_ENGLAND
TgeneTTNC1838244TIBIAL MUSCULAR DYSTROPHY, TARDIVE4CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneTTNC1449563Cardiomyopathy, Familial Idiopathic3CTD_human
TgeneTTNC1837342MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J3CTD_human;GENOMICS_ENGLAND
TgeneTTNC0004238Atrial Fibrillation2CTD_human
TgeneTTNC0235480Paroxysmal atrial fibrillation2CTD_human
TgeneTTNC0751336Distal Muscular Dystrophies2CTD_human;GENOMICS_ENGLAND
TgeneTTNC2585653Persistent atrial fibrillation2CTD_human
TgeneTTNC3468561familial atrial fibrillation2CTD_human
TgeneTTNC0003886Arthrogryposis1GENOMICS_ENGLAND
TgeneTTNC0026848Myopathy1CTD_human
TgeneTTNC0151786Muscle Weakness1CTD_human
TgeneTTNC0221054Welander Distal Myopathy1CTD_human
TgeneTTNC0270960Congenital myopathy (disorder)1GENOMICS_ENGLAND
TgeneTTNC0340427Familial dilated cardiomyopathy1CTD_human;ORPHANET
TgeneTTNC0410204Myopathy, Centronuclear, Autosomal Recessive1ORPHANET
TgeneTTNC0686353Muscular Dystrophies, Limb-Girdle1GENOMICS_ENGLAND
TgeneTTNC1450052Tibial Muscular Dystrophy1CTD_human
TgeneTTNC1832931ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 21ORPHANET
TgeneTTNC1843687ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)1ORPHANET
TgeneTTNC2678065Myofibrillar Myopathy1GENOMICS_ENGLAND
TgeneTTNC3645536Autosomal Recessive Centronuclear Myopathy1ORPHANET
TgeneTTNC4552004Distal Myopathy 11CTD_human