![]() |
||||||
|
![]() | 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:ARSB-COMMD7 (FusionGDB2 ID:HG411TG149951) |
Fusion Gene Summary for ARSB-COMMD7 |
![]() |
Fusion gene information | Fusion gene name: ARSB-COMMD7 | Fusion gene ID: hg411tg149951 | Hgene | Tgene | Gene symbol | ARSB | COMMD7 | Gene ID | 411 | 149951 |
Gene name | arylsulfatase B | COMM domain containing 7 | |
Synonyms | ASB|G4S|MPS6 | C20orf92|dJ1085F17.3 | |
Cytomap | ('ARSB')('COMMD7') 5q14.1 | 20q11.21 | |
Type of gene | protein-coding | protein-coding | |
Description | arylsulfatase BN-acetylgalactosamine-4-sulfatase | COMM domain-containing protein 7 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | P15848 | . | |
Ensembl transtripts involved in fusion gene | ENST00000396151, ENST00000565165, ENST00000264914, ENST00000521800, | ||
Fusion gene scores | * DoF score | 5 X 5 X 3=75 | 7 X 5 X 6=210 |
# samples | 5 | 9 | |
** MAII score | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/210*10)=-1.22239242133645 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ARSB [Title/Abstract] AND COMMD7 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ARSB(78251117)-COMMD7(31294562), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | ARSB-COMMD7 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ARSB-COMMD7 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ARSB-COMMD7 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene 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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | COMMD7 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 15799966 |
Tgene | COMMD7 | GO:0033209 | tumor necrosis factor-mediated signaling pathway | 15799966 |
Tgene | COMMD7 | GO:0045892 | negative regulation of transcription, DNA-templated | 15799966 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
![]() |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
![]() |
![]() * 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 | Non-Cancer | 201N | ARSB | chr5 | 78251117 | - | COMMD7 | chr20 | 31294562 | - |
Top |
Fusion Gene ORF analysis for ARSB-COMMD7 |
![]() * 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 |
Frame-shift | ENST00000396151 | ENST00000278980 | ARSB | chr5 | 78251117 | - | COMMD7 | chr20 | 31294562 | - |
Frame-shift | ENST00000396151 | ENST00000446419 | ARSB | chr5 | 78251117 | - | COMMD7 | chr20 | 31294562 | - |
Frame-shift | ENST00000565165 | ENST00000278980 | ARSB | chr5 | 78251117 | - | COMMD7 | chr20 | 31294562 | - |
Frame-shift | ENST00000565165 | ENST00000446419 | ARSB | chr5 | 78251117 | - | COMMD7 | chr20 | 31294562 | - |
In-frame | ENST00000264914 | ENST00000278980 | ARSB | chr5 | 78251117 | - | COMMD7 | chr20 | 31294562 | - |
In-frame | ENST00000264914 | ENST00000446419 | ARSB | chr5 | 78251117 | - | COMMD7 | chr20 | 31294562 | - |
intron-3CDS | ENST00000521800 | ENST00000278980 | ARSB | chr5 | 78251117 | - | COMMD7 | chr20 | 31294562 | - |
intron-3CDS | ENST00000521800 | ENST00000446419 | ARSB | chr5 | 78251117 | - | COMMD7 | chr20 | 31294562 | - |
![]() |
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) |
ENST00000264914 | ARSB | chr5 | 78251117 | - | ENST00000278980 | COMMD7 | chr20 | 31294562 | - | 2488 | 1435 | 270 | 1796 | 508 |
ENST00000264914 | ARSB | chr5 | 78251117 | - | ENST00000446419 | COMMD7 | chr20 | 31294562 | - | 2476 | 1435 | 270 | 1796 | 508 |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000264914 | ENST00000278980 | ARSB | chr5 | 78251117 | - | COMMD7 | chr20 | 31294562 | - | 0.002679877 | 0.9973201 |
ENST00000264914 | ENST00000446419 | ARSB | chr5 | 78251117 | - | COMMD7 | chr20 | 31294562 | - | 0.00272462 | 0.9972754 |
Top |
Fusion Genomic Features for ARSB-COMMD7 |
![]() |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
![]() |
![]() |
Top |
Fusion Protein Features for ARSB-COMMD7 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr5:78251117/chr20:31294562) - 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. |
![]() |
![]() |
Hgene | Tgene |
ARSB | . |
FUNCTION: Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation (PubMed:19306108). Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium (PubMed:19306108). In the central nervous system, is a regulator of neurite outgrowth and neuronal plasticity, acting through the control of sulfate glycosaminoglycans and neurocan levels (By similarity). {ECO:0000250|UniProtKB:P50430, ECO:0000269|PubMed:19306108}. | 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 |
Tgene | COMMD7 | chr5:78251117 | chr20:31294562 | ENST00000278980 | 2 | 9 | 133_200 | 80 | 201.0 | Domain | COMM | |
Tgene | COMMD7 | chr5:78251117 | chr20:31294562 | ENST00000446419 | 2 | 9 | 133_200 | 79 | 200.0 | Domain | COMM |
- 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 |
Top |
Fusion Gene Sequence for ARSB-COMMD7 |
![]() |
>6874_6874_1_ARSB-COMMD7_ARSB_chr5_78251117_ENST00000264914_COMMD7_chr20_31294562_ENST00000278980_length(transcript)=2488nt_BP=1435nt CTGCCACAGGCTGGGCTCTTGTGCTAGAAATGACTTGCTAGCTAGACATCATGGTTCAGGATCTGAGTCAGAGGTTTAACCATTTATAAG CTTTTTTCTTATGAAAAATTGGCACTAATTATAATGTCTAACTGTCAGAGTTGTTGCAGGCTTTACAGGAGACGCGGGCTGTGAAGATGC TTTGTAAATTGTGAAGCGTTATTAAAGAACACATCTTTTTTTTTTAGGAAACCACAGTGCAAATTTAATTGCCGGGGAAGATAACGGGCC TTGGTGCCCTCCAAGCGTCAGCTGAGTTTCCAAGAAGCCGGGCAGCGGGCGCCCGCGGGTTCGTCTCTGGCTCCTCCTCCGCCACAGCAG CCGGGGGCCCGGGTCGGAGGCGGCGGGGGCCGAGCGCCCGGCCTCGCAAGCCCACGGCCCGCTGGGGGTGCCGTCCCGCGCCGGGGCGGA GCAGGCCCCGGCAGCCCAGTTCCTCATTCTATCAGCGGTACAAGGGGCTGGTGGCGCCACAGGCGCTGGGACCGCGGGCGGACAAGGATG GGTCCGCGCGGCGCGGCGAGCTTGCCCCGAGGCCCCGGACCTCGGCGGCTGCTCCTCCCCGTCGTCCTCCCGCTGCTGCTGCTGCTGTTG TTGGCGCCGCCGGGCTCGGGCGCCGGGGCCAGCCGGCCGCCCCACCTGGTCTTCTTGCTGGCAGACGACCTAGGCTGGAACGACGTCGGC TTCCACGGCTCCCGCATCCGCACGCCGCACCTGGACGCGCTGGCGGCCGGCGGGGTGCTCCTGGACAACTACTACACGCAGCCGCTGTGC ACGCCGTCGCGGAGCCAGCTGCTCACTGGCCGCTACCAGATCCGTACAGGTTTACAGCACCAAATAATCTGGCCCTGTCAGCCCAGCTGT GTTCCTCTGGATGAAAAACTCCTGCCCCAGCTCCTAAAAGAAGCAGGTTATACTACCCATATGGTCGGAAAATGGCACCTGGGAATGTAC CGGAAAGAATGCCTTCCAACCCGCCGAGGATTTGATACCTACTTTGGATATCTCCTGGGTAGTGAAGATTATTATTCCCATGAACGCTGT ACATTAATTGACGCTCTGAATGTCACACGATGTGCTCTTGATTTTCGAGATGGCGAAGAAGTTGCAACAGGATATAAAAATATGTATTCA ACAAACATATTCACCAAAAGGGCTATAGCCCTCATAACTAACCATCCACCAGAGAAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTG CATGAGCCCCTTCAGGTCCCTGAGGAATACTTGAAGCCATATGACTTTATCCAAGACAAGAACAGGCATCACTATGCAGGAATGGTGTCC CTTATGGATGAAGCAGTAGGAAATGTCACTGCAGCTTTAAAAAGCAGTGGGCTCTGGAACAACACGGTGTTCATCTTTTCTACAGGTGCT TTGAAGAAGAGTCTCACAGCCAAGCAGGTCCAGGCGGATTTCATAACTCTGGGTCTTAGTGAGGAGAAAGCCACTTACTTTTCTGAAAAG TGGAAGCAGAATGCTCCCACCCTTGCTCGATGGGCCATAGGTCAGACTCTGATGATTAACCAGCTCATAGATATGGAGTGGAAATTTGGA GTGACATCTGGGAGCAGCGAATTGGAGAAAGTGGGAAGTATATTTTTACAACTAAAGTTGGTGGTTAAGAAAGGAAATCAAACCGAAAAT GTGTATATAGAATTAACCTTGCCTCAGTTCTACAGCTTCCTGCACGAGATGGAGCGAGTCAGAACCAGCATGGAGTGTTTCTGCTGATTT CTGTCCCTGCATCTCCCCTGGCCCCGTTCCCTGCCCTCCTCCCTTCCCTGGGTGACTGCTCTGAGAGGCACTTCACTCACAGGCCTGTGG GATGCTCCATGGGGCCCTGCTGGCTCCATGGGGCCCAGGTGCAAAGGGTTTCTGAAAAACAGCAGGATTAAGTACTGAAAGAGCCCAACA CAATTACCCTGTAAACTCTCTGTTAGGGCAACCACCACCACCTGTCTTCCAGGACACATTTTTAGATACTCTGACAGGCCACTGCATCTC AGATTCAGGGGAGAAAATAAGTTGTCACCTCCCCTTCAAAGTTCCAGAGTAAACAAATGGTGCCATCATTCAAGATAACATGCTGATCAC CCTCCTCCCAAAAAGCAAGAGCTTGTTTATGGCTGAGGAATCGGCGGATTGTCTGAATGACACATATACAGAGCCCCCACGGATTTCTGC ACACTCTGGGTCTGTGCTGGTGGAACATTGCCAATCAGTTCTTAATGAGGCACCTGTGTGTAAATACATGCTTGGTCTTCTCTGCAGAGA ACTGAGGCTAAACTCTGTCCCTACTTCTGGTTTTGCCCTGTCATGTCGTAACGAGGTGGGCCTTTTGAGGCCATTTTAGTTTGAGTTCGA GCCAACCACCTCTGTTGGTTAGATGATGAATAAAAAGGTTCTGAAGAAAAGGTCTGGA >6874_6874_1_ARSB-COMMD7_ARSB_chr5_78251117_ENST00000264914_COMMD7_chr20_31294562_ENST00000278980_length(amino acids)=508AA_BP=388 MVPSKRQLSFQEAGQRAPAGSSLAPPPPQQPGARVGGGGGRAPGLASPRPAGGAVPRRGGAGPGSPVPHSISGTRGWWRHRRWDRGRTRM GPRGAASLPRGPGPRRLLLPVVLPLLLLLLLAPPGSGAGASRPPHLVFLLADDLGWNDVGFHGSRIRTPHLDALAAGGVLLDNYYTQPLC TPSRSQLLTGRYQIRTGLQHQIIWPCQPSCVPLDEKLLPQLLKEAGYTTHMVGKWHLGMYRKECLPTRRGFDTYFGYLLGSEDYYSHERC TLIDALNVTRCALDFRDGEEVATGYKNMYSTNIFTKRAIALITNHPPEKPLFLYLALQSVHEPLQVPEEYLKPYDFIQDKNRHHYAGMVS LMDEAVGNVTAALKSSGLWNNTVFIFSTGALKKSLTAKQVQADFITLGLSEEKATYFSEKWKQNAPTLARWAIGQTLMINQLIDMEWKFG VTSGSSELEKVGSIFLQLKLVVKKGNQTENVYIELTLPQFYSFLHEMERVRTSMECFC -------------------------------------------------------------- >6874_6874_2_ARSB-COMMD7_ARSB_chr5_78251117_ENST00000264914_COMMD7_chr20_31294562_ENST00000446419_length(transcript)=2476nt_BP=1435nt CTGCCACAGGCTGGGCTCTTGTGCTAGAAATGACTTGCTAGCTAGACATCATGGTTCAGGATCTGAGTCAGAGGTTTAACCATTTATAAG CTTTTTTCTTATGAAAAATTGGCACTAATTATAATGTCTAACTGTCAGAGTTGTTGCAGGCTTTACAGGAGACGCGGGCTGTGAAGATGC TTTGTAAATTGTGAAGCGTTATTAAAGAACACATCTTTTTTTTTTAGGAAACCACAGTGCAAATTTAATTGCCGGGGAAGATAACGGGCC TTGGTGCCCTCCAAGCGTCAGCTGAGTTTCCAAGAAGCCGGGCAGCGGGCGCCCGCGGGTTCGTCTCTGGCTCCTCCTCCGCCACAGCAG CCGGGGGCCCGGGTCGGAGGCGGCGGGGGCCGAGCGCCCGGCCTCGCAAGCCCACGGCCCGCTGGGGGTGCCGTCCCGCGCCGGGGCGGA GCAGGCCCCGGCAGCCCAGTTCCTCATTCTATCAGCGGTACAAGGGGCTGGTGGCGCCACAGGCGCTGGGACCGCGGGCGGACAAGGATG GGTCCGCGCGGCGCGGCGAGCTTGCCCCGAGGCCCCGGACCTCGGCGGCTGCTCCTCCCCGTCGTCCTCCCGCTGCTGCTGCTGCTGTTG TTGGCGCCGCCGGGCTCGGGCGCCGGGGCCAGCCGGCCGCCCCACCTGGTCTTCTTGCTGGCAGACGACCTAGGCTGGAACGACGTCGGC TTCCACGGCTCCCGCATCCGCACGCCGCACCTGGACGCGCTGGCGGCCGGCGGGGTGCTCCTGGACAACTACTACACGCAGCCGCTGTGC ACGCCGTCGCGGAGCCAGCTGCTCACTGGCCGCTACCAGATCCGTACAGGTTTACAGCACCAAATAATCTGGCCCTGTCAGCCCAGCTGT GTTCCTCTGGATGAAAAACTCCTGCCCCAGCTCCTAAAAGAAGCAGGTTATACTACCCATATGGTCGGAAAATGGCACCTGGGAATGTAC CGGAAAGAATGCCTTCCAACCCGCCGAGGATTTGATACCTACTTTGGATATCTCCTGGGTAGTGAAGATTATTATTCCCATGAACGCTGT ACATTAATTGACGCTCTGAATGTCACACGATGTGCTCTTGATTTTCGAGATGGCGAAGAAGTTGCAACAGGATATAAAAATATGTATTCA ACAAACATATTCACCAAAAGGGCTATAGCCCTCATAACTAACCATCCACCAGAGAAGCCTCTGTTTCTCTACCTTGCTCTCCAGTCTGTG CATGAGCCCCTTCAGGTCCCTGAGGAATACTTGAAGCCATATGACTTTATCCAAGACAAGAACAGGCATCACTATGCAGGAATGGTGTCC CTTATGGATGAAGCAGTAGGAAATGTCACTGCAGCTTTAAAAAGCAGTGGGCTCTGGAACAACACGGTGTTCATCTTTTCTACAGGTGCT TTGAAGAAGAGTCTCACAGCCAAGCAGGTCCAGGCGGATTTCATAACTCTGGGTCTTAGTGAGGAGAAAGCCACTTACTTTTCTGAAAAG TGGAAGCAGAATGCTCCCACCCTTGCTCGATGGGCCATAGGTCAGACTCTGATGATTAACCAGCTCATAGATATGGAGTGGAAATTTGGA GTGACATCTGGGAGCAGCGAATTGGAGAAAGTGGGAAGTATATTTTTACAACTAAAGTTGGTGGTTAAGAAAGGAAATCAAACCGAAAAT GTGTATATAGAATTAACCTTGCCTCAGTTCTACAGCTTCCTGCACGAGATGGAGCGAGTCAGAACCAGCATGGAGTGTTTCTGCTGATTT CTGTCCCTGCATCTCCCCTGGCCCCGTTCCCTGCCCTCCTCCCTTCCCTGGGTGACTGCTCTGAGAGGCACTTCACTCACAGGCCTGTGG GATGCTCCATGGGGCCCTGCTGGCTCCATGGGGCCCAGGTGCAAAGGGTTTCTGAAAAACAGCAGGATTAAGTACTGAAAGAGCCCAACA CAATTACCCTGTAAACTCTCTGTTAGGGCAACCACCACCACCTGTCTTCCAGGACACATTTTTAGATACTCTGACAGGCCACTGCATCTC AGATTCAGGGGAGAAAATAAGTTGTCACCTCCCCTTCAAAGTTCCAGAGTAAACAAATGGTGCCATCATTCAAGATAACATGCTGATCAC CCTCCTCCCAAAAAGCAAGAGCTTGTTTATGGCTGAGGAATCGGCGGATTGTCTGAATGACACATATACAGAGCCCCCACGGATTTCTGC ACACTCTGGGTCTGTGCTGGTGGAACATTGCCAATCAGTTCTTAATGAGGCACCTGTGTGTAAATACATGCTTGGTCTTCTCTGCAGAGA ACTGAGGCTAAACTCTGTCCCTACTTCTGGTTTTGCCCTGTCATGTCGTAACGAGGTGGGCCTTTTGAGGCCATTTTAGTTTGAGTTCGA GCCAACCACCTCTGTTGGTTAGATGATGAATAAAAAGGTTCTGAAG >6874_6874_2_ARSB-COMMD7_ARSB_chr5_78251117_ENST00000264914_COMMD7_chr20_31294562_ENST00000446419_length(amino acids)=508AA_BP=388 MVPSKRQLSFQEAGQRAPAGSSLAPPPPQQPGARVGGGGGRAPGLASPRPAGGAVPRRGGAGPGSPVPHSISGTRGWWRHRRWDRGRTRM GPRGAASLPRGPGPRRLLLPVVLPLLLLLLLAPPGSGAGASRPPHLVFLLADDLGWNDVGFHGSRIRTPHLDALAAGGVLLDNYYTQPLC TPSRSQLLTGRYQIRTGLQHQIIWPCQPSCVPLDEKLLPQLLKEAGYTTHMVGKWHLGMYRKECLPTRRGFDTYFGYLLGSEDYYSHERC TLIDALNVTRCALDFRDGEEVATGYKNMYSTNIFTKRAIALITNHPPEKPLFLYLALQSVHEPLQVPEEYLKPYDFIQDKNRHHYAGMVS LMDEAVGNVTAALKSSGLWNNTVFIFSTGALKKSLTAKQVQADFITLGLSEEKATYFSEKWKQNAPTLARWAIGQTLMINQLIDMEWKFG VTSGSSELEKVGSIFLQLKLVVKKGNQTENVYIELTLPQFYSFLHEMERVRTSMECFC -------------------------------------------------------------- |
Top |
Fusion Gene PPI Analysis for ARSB-COMMD7 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for ARSB-COMMD7 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
Related Diseases for ARSB-COMMD7 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ARSB | C0026709 | Mucopolysaccharidosis VI | 15 | CTD_human;GENOMICS_ENGLAND;UNIPROT |