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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:DYM-CFAP53 (FusionGDB2 ID:HG54808TG220136) |
Fusion Gene Summary for DYM-CFAP53 |
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Fusion gene information | Fusion gene name: DYM-CFAP53 | Fusion gene ID: hg54808tg220136 | Hgene | Tgene | Gene symbol | DYM | CFAP53 | Gene ID | 54808 | 220136 |
Gene name | dymeclin | cilia and flagella associated protein 53 | |
Synonyms | DMC|SMC | CCDC11|HTX6 | |
Cytomap | ('DYM','DYM')('CCDC11','CFAP53') 18q21.1 | 18q21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | dymeclindyggve-Melchior-Clausen syndrome protein | cilia- and flagella-associated protein 53coiled-coil domain containing 11 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q7RTS9 | . | |
Ensembl transtripts involved in fusion gene | ENST00000269445, ENST00000442713, ENST00000578396, ENST00000584977, | ||
Fusion gene scores | * DoF score | 24 X 18 X 10=4320 | 2 X 3 X 2=12 |
# samples | 26 | 3 | |
** MAII score | log2(26/4320*10)=-4.05444778402238 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: DYM [Title/Abstract] AND CFAP53 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | DYM(46623772)-CCDC11(47753979), # samples:1 DYM(46623772)-CFAP53(47753979), # 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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 | SARC | TCGA-DX-A8BG-01A | DYM | chr18 | 46623772 | - | CCDC11 | chr18 | 47753979 | - |
ChimerDB4 | SARC | TCGA-DX-A8BG-01A | DYM | chr18 | 46623772 | - | CFAP53 | chr18 | 47753979 | - |
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Fusion Gene ORF analysis for DYM-CFAP53 |
![]() * 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 |
In-frame | ENST00000269445 | ENST00000398545 | DYM | chr18 | 46623772 | - | CCDC11 | chr18 | 47753979 | - |
In-frame | ENST00000442713 | ENST00000398545 | DYM | chr18 | 46623772 | - | CCDC11 | chr18 | 47753979 | - |
intron-3CDS | ENST00000578396 | ENST00000398545 | DYM | chr18 | 46623772 | - | CCDC11 | chr18 | 47753979 | - |
intron-3CDS | ENST00000584977 | ENST00000398545 | DYM | chr18 | 46623772 | - | CCDC11 | chr18 | 47753979 | - |
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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) |
ENST00000442713 | DYM | chr18 | 46623772 | - | ENST00000398545 | CCDC11 | chr18 | 47753979 | - | 2028 | 1611 | 321 | 1715 | 464 |
ENST00000269445 | DYM | chr18 | 46623772 | - | ENST00000398545 | CCDC11 | chr18 | 47753979 | - | 2735 | 2318 | 458 | 2422 | 654 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000442713 | ENST00000398545 | DYM | chr18 | 46623772 | - | CCDC11 | chr18 | 47753979 | - | 0.003824193 | 0.99617577 |
ENST00000269445 | ENST00000398545 | DYM | chr18 | 46623772 | - | CCDC11 | chr18 | 47753979 | - | 0.003073616 | 0.99692637 |
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Fusion Genomic Features for DYM-CFAP53 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for DYM-CFAP53 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:46623772/:47753979) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
DYM | . |
FUNCTION: Necessary for correct organization of Golgi apparatus. Involved in bone development. {ECO:0000269|PubMed:21280149}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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 |
Tgene | CCDC11 | chr18:46623772 | chr18:47753979 | ENST00000398545 | 6 | 8 | 203_474 | 438 | 515.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | CCDC11 | chr18:46623772 | chr18:47753979 | ENST00000398545 | 6 | 8 | 91_148 | 438 | 515.0 | Coiled coil | Ontology_term=ECO:0000255 |
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Fusion Gene Sequence for DYM-CFAP53 |
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>24561_24561_1_DYM-CCDC11_DYM_chr18_46623772_ENST00000269445_CCDC11_chr18_47753979_ENST00000398545_length(transcript)=2735nt_BP=2318nt GCTTTGCGGTAGCCCAGGAGGTACTAGGAGGGCGGAGGCACGAATAACACCCAAAGGACTACAGTTTCCAGAAGCCCGCGCGCGCCGCGT GCCACGTGACCACCTGGCTGGCGCGCGCGCCTGGGGGTCTGGTCCCTAGCCGCGTTCTCGGTCGCTTCCCTCTTCTCTCGCCGCCTCCTG GCCTCCGCACCGACGCGGCCCGGGCTGGAGCCGAGCCGGGGCCGAGCTGCAGGCCGGACCGGAGCCGGATCTGTACCCGCTGAGACGTGG AAACATGGAGGCCTGAGCCGGTGTGCGCCACCTGGGCTGCGGCGGCGACAGCGACTTCTCCTGACCCCTCTGCCACCCTCCCATCCGTCC GCGGGTCCGTGGAGCTGGAGCAGATCCCCCAGCCGGCTGAGACAGGTTGTCTTTTGGAAATGCAGGTTTAAGGACAAATTATCTGCTTAA GCTAGAAGATGGGATCGAATAGCAGCAGAATCGGCGATCTTCCTAAAAATGAGTACTTGAAAAAGTTATCAGGCACGGAATCTATCTCTG AGAATGACCCGTTCTGGAATCAGCTTCTCTCATTTTCTTTCCCTGCACCAACTAGCAGTAGTGAGTTGAAACTCTTGGAGGAAGCAACCA TTTCAGTCTGCAGGTCATTAGTTGAAAACAATCCTCGAACAGGAAATCTTGGTGCACTAATTAAGGTCTTCCTTTCTAGAACCAAAGAAC TAAAACTTTCAGCAGAATGTCAGAACCACATCTTCATTTGGCAGACACACAATGCTTTGTTTATTATTTGCTGTTTGCTGAAAGTGTTCA TCTGTCAGATGTCAGAGGAGGAATTACAACTTCATTTTACTTATGAAGAAAAATCTCCTGGCAATTACAGTTCTGACTCAGAAGATCTTT TGGAAGAATTGCTGTGCTGTTTGATGCAGTTGATCACTGATATTCCACTCTTAGATATTACATATGAAATATCAGTAGAAGCTATATCAA CAATGGTTGTTTTCCTTTCCTGCCAACTCTTCCACAAAGAAGTTTTGCGACAGAGCATCAGCCACAAGTATTTGATGCGAGGTCCATGTC TTCCATACACCAGCAAACTTGTGAAGACCTTATTATATAACTTTATCAGACAAGAAAAGCCACCTCCTCCAGGGGCCCATGTTTTCCCTC AGCAGTCGGATGGGGGAGGACTGCTTTATGGACTTGCATCAGGAGTAGCAACAGGACTCTGGACTGTCTTCACACTAGGTGGTGTGGGCA GCAAAGCGGCTGCCTCTCCAGAGCTTTCTTCCCCTCTGGCCAACCAGAGTCTCCTGCTTCTGCTGGTGTTGGCCAATCTGACAGATGCCT CAGATGCGCCAAACCCCTACAGACAAGCCATTATGTCCTTCAAGAACACACAAGATAGCAGTCCTTTCCCCTCATCAATTCCACATGCCT TCCAGATCAACTTTAATAGTTTGTACACAGCTCTTTGTGAACAGCAGACATCTGATCAAGCAACTCTCCTCTTGTATACCTTGCTCCATC AAAATAGTAATATTAGAACATACATGTTGGCTCGCACAGATATGGAAAATCTTGTTTTACCAATTCTTGAGATTCTGTATCATGTTGAAG AAAGGAATTCACACCATGTGTATATGGCCCTTATAATATTGTTGATCCTTACGGAAGATGATGGCTTCAACAGATCCATTCATGAAGTGA TACTAAAAAATATTACTTGGTATTCAGAACGAGTTTTAACTGAAATCTCCTTGGGGAGTCTCCTGATCCTGGTGGTAATAAGAACCATTC AATACAACATGACTAGGACACGAGACAAGTACCTTCACACAAATTGTTTGGCAGCTTTAGCAAATATGTCGGCACAGTTTCGTTCTCTCC ATCAGTATGCTGCCCAGAGGATCATCAGTTTATTTTCTTTGCTGTCTAAAAAACACAACAAAGTTCTGGAACAAGCCACACAGTCCTTGA GAGGTTCGCTGAGTTCTAATGATGTTCCTCTACCAGATTATGCACAAGACCTAAATGTCATTGAAGAAGTGATTCGAATGATGTTAGAGA TCATCAACTCCTGCCTGACAAATTCCCTTCACCACAACCCAAACTTGGTATACGCCCTGCTTTACAAACGCGATCTCTTTGAACAATTTC GAACTCATCCTTCATTTCAGGATATAATGCAAAATATTGATCTGGTGATCTCCTTCTTTAGCTCAAGGTTGCTGCAAGCTGGAGCTGAGC TGTCAGTGGAACGGGTCCTGGAAATCATTAAGCAAGGCGTCGTTGCGCTGCCCAAAGACAGACTGAAGACGCCAACGTTTAGCCCAGGAG TACAGGAAGCAACTTCAGATGCAAATCGCCTACCAGCAGCAGTCCCAAGAAGCAGAGAAGGAAGAGAAACGCCGAGAGTTTGAAGCAGGT GTAGCAGCAAACAAGATGTGTTTGGACAAGGTCCAGGAGGTCCTGTCCACCCATCAAGTGCTGCCTCAAAACATTCATCCCATGCGCAAG GCATGCCCCAGTAAGCTTCCACCGTAGTTCCGTGAGCATCAATATATCTTTTCTTGGTCTTTTAATATTTTTAACTACAGTATGCTTGTA TGCTTCTTTTAACTCCTGGATAAACTTTTCTTTTTTCCCTGAGTTTGTGTAATTAATTGAACATAATTTTCTTCCTTTGAATAAACCTGT GCCTATTTTGGAGTTCACAGACTTACAAATCCAAA >24561_24561_1_DYM-CCDC11_DYM_chr18_46623772_ENST00000269445_CCDC11_chr18_47753979_ENST00000398545_length(amino acids)=654AA_BP=618 MGSNSSRIGDLPKNEYLKKLSGTESISENDPFWNQLLSFSFPAPTSSSELKLLEEATISVCRSLVENNPRTGNLGALIKVFLSRTKELKL SAECQNHIFIWQTHNALFIICCLLKVFICQMSEEELQLHFTYEEKSPGNYSSDSEDLLEELLCCLMQLITDIPLLDITYEISVEAISTMV VFLSCQLFHKEVLRQSISHKYLMRGPCLPYTSKLVKTLLYNFIRQEKPPPPGAHVFPQQSDGGGLLYGLASGVATGLWTVFTLGGVGSKA AASPELSSPLANQSLLLLLVLANLTDASDAPNPYRQAIMSFKNTQDSSPFPSSIPHAFQINFNSLYTALCEQQTSDQATLLLYTLLHQNS NIRTYMLARTDMENLVLPILEILYHVEERNSHHVYMALIILLILTEDDGFNRSIHEVILKNITWYSERVLTEISLGSLLILVVIRTIQYN MTRTRDKYLHTNCLAALANMSAQFRSLHQYAAQRIISLFSLLSKKHNKVLEQATQSLRGSLSSNDVPLPDYAQDLNVIEEVIRMMLEIIN SCLTNSLHHNPNLVYALLYKRDLFEQFRTHPSFQDIMQNIDLVISFFSSRLLQAGAELSVERVLEIIKQGVVALPKDRLKTPTFSPGVQE ATSDANRLPAAVPRSREGRETPRV -------------------------------------------------------------- >24561_24561_2_DYM-CCDC11_DYM_chr18_46623772_ENST00000442713_CCDC11_chr18_47753979_ENST00000398545_length(transcript)=2028nt_BP=1611nt AGCCGCGTTCTCGGTCGCTTCCCTCTTCTCTCGCCGCCTCCTGGCCTCCGCACCGACGCGGCCCGGGCTGGAGCCGAGCCGGGGCCGAGC TGCAGGCCGGACCGGAGCCGGATCTGTACCCGCTGAGACGTGGAAACATGGAGGCCTGAGCCGGTGTGCGCCACCTGGGCTGCGGCGGCG ACAGCGACTTCTCCTGACCCCTCTGCCACCCTCCCATCCGTCCGCGGGTCCGTGGAGCTGGAGCAGATCCCCCAGCCGGCTGAGACAGGT TGTCTTTTGGAAATGCAGGTTTAAGGACAAATTATCTGCTTAAGCTAGAAGATGGGATCGAATAGCAGCAGAATCGGCGATCTTCCTAAA AATGAGTACTTGAAAAAGTTATCAGGCACGGAATCTATCTCTGAGAATGACCCGTTCTGGAATCAGCTTCTCTCATTTTCTTTCCCTGCA CCAACTAGCAGTAGTGAGTTGAAACTCTTGGAGGAAGCAACCATTTCAGTCTGCAGGTCATTAGCAGGACTCTGGACTGTCTTCACACTA GGTGGTGTGGGCAGCAAAGCGGCTGCCTCTCCAGAGCTTTCTTCCCCTCTGGCCAACCAGAGTCTCCTGCTTCTGCTGGTGTTGGCCAAT CTGACAGATGCCTCAGATGCGCCAAACCCCTACAGACAAGCCATTATGTCCTTCAAGAACACACAAGATAGCAGTCCTTTCCCCTCATCA ATTCCACATGCCTTCCAGATCAACTTTAATAGTTTGTACACAGCTCTTTGTGAACAGCAGACATCTGATCAAGCAACTCTCCTCTTGTAT ACCTTGCTCCATCAAAATAGTAATATTAGAACATACATGTTGGCTCGCACAGATATGGAAAATCTTGTTTTACCAATTCTTGAGATTCTG TATCATGTTGAAGAAAGGAATTCACACCATGTGTATATGGCCCTTATAATATTGTTGATCCTTACGGAAGATGATGGCTTCAACAGATCC ATTCATGAAGTGATACTAAAAAATATTACTTGGTATTCAGAACGAGTTTTAACTGAAATCTCCTTGGGGAGTCTCCTGATCCTGGTGGTA ATAAGAACCATTCAATACAACATGACTAGGACACGAGACAAGTACCTTCACACAAATTGTTTGGCAGCTTTAGCAAATATGTCGGCACAG TTTCGTTCTCTCCATCAGTATGCTGCCCAGAGGATCATCAGTTTATTTTCTTTGCTGTCTAAAAAACACAACAAAGTTCTGGAACAAGCC ACACAGTCCTTGAGAGGTTCGCTGAGTTCTAATGATGTTCCTCTACCAGATTATGCACAAGACCTAAATGTCATTGAAGAAGTGATTCGA ATGATGTTAGAGATCATCAACTCCTGCCTGACAAATTCCCTTCACCACAACCCAAACTTGGTATACGCCCTGCTTTACAAACGCGATCTC TTTGAACAATTTCGAACTCATCCTTCATTTCAGGATATAATGCAAAATATTGATCTGGTGATCTCCTTCTTTAGCTCAAGGTTGCTGCAA GCTGGAGCTGAGCTGTCAGTGGAACGGGTCCTGGAAATCATTAAGCAAGGCGTCGTTGCGCTGCCCAAAGACAGACTGAAGACGCCAACG TTTAGCCCAGGAGTACAGGAAGCAACTTCAGATGCAAATCGCCTACCAGCAGCAGTCCCAAGAAGCAGAGAAGGAAGAGAAACGCCGAGA GTTTGAAGCAGGTGTAGCAGCAAACAAGATGTGTTTGGACAAGGTCCAGGAGGTCCTGTCCACCCATCAAGTGCTGCCTCAAAACATTCA TCCCATGCGCAAGGCATGCCCCAGTAAGCTTCCACCGTAGTTCCGTGAGCATCAATATATCTTTTCTTGGTCTTTTAATATTTTTAACTA CAGTATGCTTGTATGCTTCTTTTAACTCCTGGATAAACTTTTCTTTTTTCCCTGAGTTTGTGTAATTAATTGAACATAATTTTCTTCCTT TGAATAAACCTGTGCCTATTTTGGAGTTCACAGACTTACAAATCCAAA >24561_24561_2_DYM-CCDC11_DYM_chr18_46623772_ENST00000442713_CCDC11_chr18_47753979_ENST00000398545_length(amino acids)=464AA_BP=428 MGSNSSRIGDLPKNEYLKKLSGTESISENDPFWNQLLSFSFPAPTSSSELKLLEEATISVCRSLAGLWTVFTLGGVGSKAAASPELSSPL ANQSLLLLLVLANLTDASDAPNPYRQAIMSFKNTQDSSPFPSSIPHAFQINFNSLYTALCEQQTSDQATLLLYTLLHQNSNIRTYMLART DMENLVLPILEILYHVEERNSHHVYMALIILLILTEDDGFNRSIHEVILKNITWYSERVLTEISLGSLLILVVIRTIQYNMTRTRDKYLH TNCLAALANMSAQFRSLHQYAAQRIISLFSLLSKKHNKVLEQATQSLRGSLSSNDVPLPDYAQDLNVIEEVIRMMLEIINSCLTNSLHHN PNLVYALLYKRDLFEQFRTHPSFQDIMQNIDLVISFFSSRLLQAGAELSVERVLEIIKQGVVALPKDRLKTPTFSPGVQEATSDANRLPA AVPRSREGRETPRV -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for DYM-CFAP53 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for DYM-CFAP53 |
![]() (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 DYM-CFAP53 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | DYM | C0265286 | Dyggve-Melchior-Clausen syndrome | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | DYM | C3888088 | SMITH-MCCORT DYSPLASIA 1 | 4 | GENOMICS_ENGLAND;UNIPROT |
Hgene | DYM | C1846431 | SMITH-MCCORT DYSPLASIA | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | DYM | C0036341 | Schizophrenia | 1 | PSYGENET |
Tgene | C3553676 | HETEROTAXY, VISCERAL, 6, AUTOSOMAL | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0266642 | Situs ambiguus | 2 | GENOMICS_ENGLAND;ORPHANET | |
Tgene | C0037221 | Situs Inversus | 1 | ORPHANET | |
Tgene | C1167664 | Situs ambiguous | 1 | ORPHANET |