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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:ALOX5-PRSS1 (FusionGDB2 ID:HG240TG5644)

Fusion Gene Summary for ALOX5-PRSS1

check button Fusion gene summary
Fusion gene informationFusion gene name: ALOX5-PRSS1
Fusion gene ID: hg240tg5644
HgeneTgene
Gene symbol

ALOX5

PRSS1

Gene ID

240

5644

Gene namearachidonate 5-lipoxygenaseserine protease 1
Synonyms5-LO|5-LOX|5LPG|LOG5TRP1|TRY1|TRY4|TRYP1
Cytomap('ALOX5')('PRSS1')

10q11.21

7q34

Type of geneprotein-codingprotein-coding
Descriptionarachidonate 5-lipoxygenaseLOX-5arachidonic 5-lipoxygenase alpha-10 isoformarachidonic 5-lipoxygenase delta-10-13 isoformarachidonic 5-lipoxygenase delta-13 isoformarachidonic 5-lipoxygenase delta-p10 isoformarachidonic acid 5-lipoxygenaseleukotrietrypsin-1TCR V beta 4.1beta-trypsincationic trypsinogendigestive zymogennonfunctional trypsin 1protease, serine 1trypsinogen 1trypsinogen A
Modification date2020032720200321
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000374391, ENST00000542434, 
ENST00000493336, 
Fusion gene scores* DoF score3 X 3 X 1=912 X 17 X 5=1020
# samples 315
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(15/1020*10)=-2.76553474636298
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ALOX5 [Title/Abstract] AND PRSS1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointALOX5(45924120)-PRSS1(142460859), # samples:1
Anticipated loss of major functional domain due to fusion event.ALOX5-PRSS1 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.
ALOX5-PRSS1 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.
ALOX5-PRSS1 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.
ALOX5-PRSS1 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.
ALOX5-PRSS1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ALOX5-PRSS1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ALOX5-PRSS1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneALOX5

GO:0019370

leukotriene biosynthetic process

21233389

HgeneALOX5

GO:0050728

negative regulation of inflammatory response

21206090


check buttonFusion gene breakpoints across ALOX5 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across PRSS1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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


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Fusion Gene ORF analysis for ALOX5-PRSS1

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

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
ENST00000542434ENST00000486171ALOX5chr1045924120+PRSS1chr7142460859+0.357181250.6428187
ENST00000374391ENST00000486171ALOX5chr1045924120+PRSS1chr7142460859+0.48572990.51427007

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Fusion Genomic Features for ALOX5-PRSS1


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.
genomic feature

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Fusion Protein Features for ALOX5-PRSS1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr10:45924120/chr7:142460859)
- 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.
FGviewer

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

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
TgenePRSS1chr10:45924120chr7:142460859ENST000003117370524_2440248.0DomainPeptidase S1

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneALOX5chr10:45924120chr7:142460859ENST00000374391+114119_6740675.0DomainLipoxygenase
HgeneALOX5chr10:45924120chr7:142460859ENST00000374391+1142_1180675.0DomainPLAT
HgeneALOX5chr10:45924120chr7:142460859ENST00000542434+113119_6740618.0DomainLipoxygenase
HgeneALOX5chr10:45924120chr7:142460859ENST00000542434+1132_1180618.0DomainPLAT


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Fusion Gene Sequence for ALOX5-PRSS1


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.
>4100_4100_1_ALOX5-PRSS1_ALOX5_chr10_45924120_ENST00000374391_PRSS1_chr7_142460859_ENST00000486171_length(transcript)=991nt_BP=979nt
CCTGGACCGCCGCGCCGAGGCTCCCGGCGCTCGCTGCTCCCGCGGCCCGCGCCATGCCCTCCTACACGGTCACCGTGGCCACTGGCAGCC
AGTGGTTCGCCGGCACTGACGACTACATCTACCTCAGCCTCGTGGGCTCGGCGGGCTGCAGCGAGAAGCACCTGCTGGACAAGCCCTTCT
ACAACGACTTCGAGCGTGGCGCGGTGGATTCATACGACGTGACTGTGGACGAGGAACTGGGCGAGATCCAGCTGGTCAGAATCGAGAAGC
GCAAGTACTGGCTGAATGACGACTGGTACCTGAAGTACATCACGCTGAAGACGCCCCACGGGGACTACATCGAGTTCCCCTGCTACCGCT
GGATCACCGGCGATGTCGAGGTTGTCCTGAGGGATGGACGCGCAAAGTTGGCCCGAGATGACCAAATTCACATTCTCAAGCAACACCGAC
GTAAAGAACTGGAAACACGGCAAAAACAATATCGATGGATGGAGTGGAACCCTGGCTTCCCCTTGAGCATCGATGCCAAATGCCACAAGG
ATTTACCCCGTGATATCCAGTTTGATAGTGAAAAAGGAGTGGACTTTGTTCTGAATTACTCCAAAGCGATGGAGAACCTGTTCATCAACC
GCTTCATGCACATGTTCCAGTCTTCTTGGAATGACTTCGCCGACTTTGAGAAAATCTTTGTCAAGATCAGCAACACTATTTCTGAGCGGG
TCATGAATCACTGGCAGGAAGACCTGATGTTTGGCTACCAGTTCCTGAATGGCTGCAACCCTGTGTTGATCCGGCGCTGCACAGAGCTGC
CCGAGAAGCTCCCGGTGACCACGGAGATGGTAGAGTGCAGCCTGGAGCGGCAGCTCAGCTTGGAGCAGGAGGTCCAGAAACAGACCCCTG
CACACTCCAGTTCCTGGCCGCTCCCATCTGCTTGCTGTATAAGAACCTGGCCAACAAGATTGTCCCCATTGCCATCCAGGCCAATAGCTA

>4100_4100_1_ALOX5-PRSS1_ALOX5_chr10_45924120_ENST00000374391_PRSS1_chr7_142460859_ENST00000486171_length(amino acids)=312AA_BP=
MPSYTVTVATGSQWFAGTDDYIYLSLVGSAGCSEKHLLDKPFYNDFERGAVDSYDVTVDEELGEIQLVRIEKRKYWLNDDWYLKYITLKT
PHGDYIEFPCYRWITGDVEVVLRDGRAKLARDDQIHILKQHRRKELETRQKQYRWMEWNPGFPLSIDAKCHKDLPRDIQFDSEKGVDFVL
NYSKAMENLFINRFMHMFQSSWNDFADFEKIFVKISNTISERVMNHWQEDLMFGYQFLNGCNPVLIRRCTELPEKLPVTTEMVECSLERQ

--------------------------------------------------------------
>4100_4100_2_ALOX5-PRSS1_ALOX5_chr10_45924120_ENST00000542434_PRSS1_chr7_142460859_ENST00000486171_length(transcript)=1005nt_BP=993nt
GCTAGATGCGGACACCTGGACCGCCGCGCCGAGGCTCCCGGCGCTCGCTGCTCCCGCGGCCCGCGCCATGCCCTCCTACACGGTCACCGT
GGCCACTGGCAGCCAGTGGTTCGCCGGCACTGACGACTACATCTACCTCAGCCTCGTGGGCTCGGCGGGCTGCAGCGAGAAGCACCTGCT
GGACAAGCCCTTCTACAACGACTTCGAGCGTGGCGCGGTGGATTCATACGACGTGACTGTGGACGAGGAACTGGGCGAGATCCAGCTGGT
CAGAATCGAGAAGCGCAAGTACTGGCTGAATGACGACTGGTACCTGAAGTACATCACGCTGAAGACGCCCCACGGGGACTACATCGAGTT
CCCCTGCTACCGCTGGATCACCGGCGATGTCGAGGTTGTCCTGAGGGATGGACGCGCAAAGTTGGCCCGAGATGACCAAATTCACATTCT
CAAGCAACACCGACGTAAAGAACTGGAAACACGGCAAAAACAATATCGATGGATGGAGTGGAACCCTGGCTTCCCCTTGAGCATCGATGC
CAAATGCCACAAGGATTTACCCCGTGATATCCAGTTTGATAGTGAAAAAGGAGTGGACTTTGTTCTGAATTACTCCAAAGCGATGGAGAA
CCTGTTCATCAACCGCTTCATGCACATGTTCCAGTCTTCTTGGAATGACTTCGCCGACTTTGAGAAAATCTTTGTCAAGATCAGCAACAC
TATTTCTGAGCGGGTCATGAATCACTGGCAGGAAGACCTGATGTTTGGCTACCAGTTCCTGAATGGCTGCAACCCTGTGTTGATCCGGCG
CTGCACAGAGCTGCCCGAGAAGCTCCCGGTGACCACGGAGATGGTAGAGTGCAGCCTGGAGCGGCAGCTCAGCTTGGAGCAGGAGGTCCA
GAAACAGACCCCTGCACACTCCAGTTCCTGGCCGCTCCCATCTGCTTGCTGTATAAGAACCTGGCCAACAAGATTGTCCCCATTGCCATC

>4100_4100_2_ALOX5-PRSS1_ALOX5_chr10_45924120_ENST00000542434_PRSS1_chr7_142460859_ENST00000486171_length(amino acids)=312AA_BP=
MPSYTVTVATGSQWFAGTDDYIYLSLVGSAGCSEKHLLDKPFYNDFERGAVDSYDVTVDEELGEIQLVRIEKRKYWLNDDWYLKYITLKT
PHGDYIEFPCYRWITGDVEVVLRDGRAKLARDDQIHILKQHRRKELETRQKQYRWMEWNPGFPLSIDAKCHKDLPRDIQFDSEKGVDFVL
NYSKAMENLFINRFMHMFQSSWNDFADFEKIFVKISNTISERVMNHWQEDLMFGYQFLNGCNPVLIRRCTELPEKLPVTTEMVECSLERQ

--------------------------------------------------------------

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Fusion Gene PPI Analysis for ALOX5-PRSS1


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 ALOX5-PRSS1


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 ALOX5-PRSS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALOX5C0007102Malignant tumor of colon3CTD_human
HgeneALOX5C0009375Colonic Neoplasms3CTD_human
HgeneALOX5C0023473Myeloid Leukemia, Chronic2CTD_human
HgeneALOX5C0001418Adenocarcinoma1CTD_human
HgeneALOX5C0001430Adenoma1CTD_human
HgeneALOX5C0003873Rheumatoid Arthritis1CTD_human
HgeneALOX5C0004153Atherosclerosis1CTD_human
HgeneALOX5C0007134Renal Cell Carcinoma1CTD_human
HgeneALOX5C0009319Colitis1CTD_human
HgeneALOX5C0009376Colonic Polyps1CTD_human
HgeneALOX5C0011609Drug Eruptions1CTD_human
HgeneALOX5C0020429Hyperalgesia1CTD_human
HgeneALOX5C0020542Pulmonary Hypertension1CTD_human
HgeneALOX5C0024623Malignant neoplasm of stomach1CTD_human
HgeneALOX5C0026766Multiple Organ Failure1CTD_human
HgeneALOX5C0027626Neoplasm Invasiveness1CTD_human
HgeneALOX5C0027627Neoplasm Metastasis1CTD_human
HgeneALOX5C0027719Nephrosclerosis1CTD_human
HgeneALOX5C0033578Prostatic Neoplasms1CTD_human
HgeneALOX5C0035126Reperfusion Injury1CTD_human
HgeneALOX5C0038356Stomach Neoplasms1CTD_human
HgeneALOX5C0042109Urticaria1CTD_human
HgeneALOX5C0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneALOX5C0205641Adenocarcinoma, Basal Cell1CTD_human
HgeneALOX5C0205642Adenocarcinoma, Oxyphilic1CTD_human
HgeneALOX5C0205643Carcinoma, Cribriform1CTD_human
HgeneALOX5C0205644Carcinoma, Granular Cell1CTD_human
HgeneALOX5C0205645Adenocarcinoma, Tubular1CTD_human
HgeneALOX5C0205646Adenoma, Basal Cell1CTD_human
HgeneALOX5C0205647Follicular adenoma1CTD_human
HgeneALOX5C0205648Adenoma, Microcystic1CTD_human
HgeneALOX5C0205649Adenoma, Monomorphic1CTD_human
HgeneALOX5C0205650Papillary adenoma1CTD_human
HgeneALOX5C0205651Adenoma, Trabecular1CTD_human
HgeneALOX5C0235974Pancreatic carcinoma1CTD_human
HgeneALOX5C0238281Middle Cerebral Artery Syndrome1CTD_human
HgeneALOX5C0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgeneALOX5C0376358Malignant neoplasm of prostate1CTD_human
HgeneALOX5C0376618Endotoxemia1CTD_human
HgeneALOX5C0406537Morbilliform Drug Reaction1CTD_human
HgeneALOX5C0458247Allodynia1CTD_human
HgeneALOX5C0740376Middle Cerebral Artery Thrombosis1CTD_human
HgeneALOX5C0740391Middle Cerebral Artery Occlusion1CTD_human
HgeneALOX5C0740392Infarction, Middle Cerebral Artery1CTD_human
HgeneALOX5C0751211Hyperalgesia, Primary1CTD_human
HgeneALOX5C0751212Hyperalgesia, Secondary1CTD_human
HgeneALOX5C0751213Tactile Allodynia1CTD_human
HgeneALOX5C0751214Hyperalgesia, Thermal1CTD_human
HgeneALOX5C0751845Middle Cerebral Artery Embolus1CTD_human
HgeneALOX5C0751846Left Middle Cerebral Artery Infarction1CTD_human
HgeneALOX5C0751847Embolic Infarction, Middle Cerebral Artery1CTD_human
HgeneALOX5C0751848Thrombotic Infarction, Middle Cerebral Artery1CTD_human
HgeneALOX5C0751849Right Middle Cerebral Artery Infarction1CTD_human
HgeneALOX5C0919267ovarian neoplasm1CTD_human
HgeneALOX5C1140680Malignant neoplasm of ovary1CTD_human
HgeneALOX5C1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneALOX5C1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneALOX5C1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneALOX5C1306837Papillary Renal Cell Carcinoma1CTD_human
HgeneALOX5C1336708Testicular Germ Cell Tumor1CTD_human
HgeneALOX5C1563937Atherogenesis1CTD_human
HgeneALOX5C1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneALOX5C2936719Mechanical Allodynia1CTD_human
TgeneC0238339Hereditary pancreatitis13CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0267937Acute recurrent pancreatitis2ORPHANET
TgeneC0030305Pancreatitis1CTD_human
TgeneC0149521Pancreatitis, Chronic1CTD_human
TgeneC4080064Autosomal Dominant Hereditary Pancreatitis1CTD_human