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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:PLOD1-TUBB (FusionGDB2 ID:65976)

Fusion Gene Summary for PLOD1-TUBB

check button Fusion gene summary
Fusion gene informationFusion gene name: PLOD1-TUBB
Fusion gene ID: 65976
HgeneTgene
Gene symbol

PLOD1

TUBB

Gene ID

5351

203068

Gene nameprocollagen-lysine,2-oxoglutarate 5-dioxygenase 1tubulin beta class I
SynonymsEDS6|EDSKCL1|LH|LH1|LLH|PLODCDCBM6|CSCSC1|M40|OK/SW-cl.56|TUBB1|TUBB5
Cytomap

1p36.22

6p21.33

Type of geneprotein-codingprotein-coding
Descriptionprocollagen-lysine,2-oxoglutarate 5-dioxygenase 1lysine hydroxylaselysyl hydroxlase 1procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1tubulin beta chainbeta Ib tubulinepididymis secretory sperm binding proteintubulin beta-1 chaintubulin beta-5 chaintubulin, beta polypeptide
Modification date2020031320200327
UniProtAcc.

TULP4

Ensembl transtripts involved in fusion geneENST00000485046, ENST00000376369, 
ENST00000196061, 
ENST00000327892, 
ENST00000435534, ENST00000330914, 
ENST00000396389, ENST00000396384, 
ENST00000421473, ENST00000549614, 
ENST00000413547, ENST00000419551, 
ENST00000454620, ENST00000422674, 
ENST00000548023, ENST00000435546, 
ENST00000420400, ENST00000453350, 
ENST00000419792, ENST00000547690, 
ENST00000436335, ENST00000425136, 
ENST00000444441, ENST00000422650, 
ENST00000547695, ENST00000454454, 
ENST00000412136, ENST00000446385, 
ENST00000383564, ENST00000551208, 
ENST00000400531, ENST00000400534, 
ENST00000400530, ENST00000436628, 
ENST00000549902, ENST00000437490, 
ENST00000426754, ENST00000425102, 
ENST00000432462, ENST00000549654, 
ENST00000427480, ENST00000424734, 
ENST00000420618, 
Fusion gene scores* DoF score4 X 4 X 4=6412 X 12 X 3=432
# samples 412
** MAII scorelog2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/432*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PLOD1 [Title/Abstract] AND TUBB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPLOD1(12035371)-TUBB(30691647), # 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
HgenePLOD1

GO:0006493

protein O-linked glycosylation

10934207

HgenePLOD1

GO:0017185

peptidyl-lysine hydroxylation

8621606|9724729|10934207

TgeneTUBB

GO:0009987

cellular process

19567321


check buttonFusion gene breakpoints across PLOD1 (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 TUBB (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/AAA948311PLOD1chr1

12035371

-TUBBchr6

30691647

-


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Fusion Gene ORF analysis for PLOD1-TUBB

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-3CDSENST00000485046ENST00000327892PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000435534PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000330914PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000396389PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000396384PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000421473PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000549614PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000413547PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000419551PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000454620PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000422674PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000548023PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000435546PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000420400PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000453350PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000419792PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000547690PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000436335PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000425136PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000444441PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000422650PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000547695PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000454454PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000412136PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000446385PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000383564PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000551208PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000400531PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000400534PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000400530PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000436628PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000549902PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000437490PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000426754PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000425102PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000432462PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000549654PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000427480PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000424734PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000485046ENST00000420618PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-3CDSENST00000376369ENST00000327892PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000435534PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000330914PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000396389PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000396384PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000421473PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000549614PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000413547PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000419551PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000454620PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000422674PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000548023PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000435546PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000420400PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000453350PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000419792PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000547690PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000436335PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000425136PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000444441PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000422650PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000547695PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000454454PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000412136PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000446385PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000383564PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000551208PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000400531PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000400534PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000400530PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000436628PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000549902PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000437490PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000426754PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000425102PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000432462PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000549654PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000427480PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000424734PLOD1chr1

12035371

-TUBBchr6

30691647

-
intron-intronENST00000376369ENST00000420618PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-3CDSENST00000196061ENST00000327892PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000435534PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000330914PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000396389PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000396384PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000421473PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000549614PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000413547PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000419551PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000454620PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000422674PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000548023PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000435546PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000420400PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000453350PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000419792PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000547690PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000436335PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000425136PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000444441PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000422650PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000547695PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000454454PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000412136PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000446385PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000383564PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000551208PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000400531PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000400534PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000400530PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000436628PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000549902PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000437490PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000426754PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000425102PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000432462PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000549654PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000427480PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000424734PLOD1chr1

12035371

-TUBBchr6

30691647

-
3UTR-intronENST00000196061ENST00000420618PLOD1chr1

12035371

-TUBBchr6

30691647

-

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 PLOD1-TUBB


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 PLOD1-TUBB


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
.TUBB

TULP4

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.1543

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 PLOD1-TUBB


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 PLOD1-TUBB


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 PLOD1-TUBB


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 PLOD1-TUBB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePLOD1C0268342Ehlers-Danlos syndrome type 68CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgenePLOD1C0022821Kyphosis deformity of spine1CTD_human
HgenePLOD1C2936777Nevo syndrome (disorder)1CTD_human
HgenePLOD1C4551497Ehlers-Danlos syndrome kyphoscoliotic type1CTD_human
TgeneTUBBC4014283CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 63CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneTUBBC0473586Michelin tire baby syndrome1ORPHANET
TgeneTUBBC4551592SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 11GENOMICS_ENGLAND;UNIPROT