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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:HSPD1-ALB (FusionGDB2 ID:HG3329TG213)

Fusion Gene Summary for HSPD1-ALB

check button Fusion gene summary
Fusion gene informationFusion gene name: HSPD1-ALB
Fusion gene ID: hg3329tg213
HgeneTgene
Gene symbol

HSPD1

ALB

Gene ID

3329

213

Gene nameheat shock protein family D (Hsp60) member 1albumin
SynonymsCPN60|GROEL|HLD4|HSP-60|HSP60|HSP65|HuCHA60|SPG13HSA|PRO0883|PRO0903|PRO1341
Cytomap('HSPD1')('ALB')

2q33.1

4q13.3

Type of geneprotein-codingprotein-coding
Description60 kDa heat shock protein, mitochondrial60 kDa chaperoninP60 lymphocyte proteinchaperonin 60epididymis secretory sperm binding proteinheat shock 60kDa protein 1 (chaperonin)heat shock protein 65mitochondrial matrix protein P1short heat shock proteserum albumin
Modification date2020031520200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000345042, ENST00000388968, 
ENST00000544407, 
Fusion gene scores* DoF score7 X 7 X 3=14749 X 62 X 5=15190
# samples 764
** MAII scorelog2(7/147*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(64/15190*10)=-4.56890615450208
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HSPD1 [Title/Abstract] AND ALB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHSPD1(198362085)-ALB(74279217), # 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
HgeneHSPD1

GO:0002368

B cell cytokine production

16148103

HgeneHSPD1

GO:0002755

MyD88-dependent toll-like receptor signaling pathway

16148103

HgeneHSPD1

GO:0002842

positive regulation of T cell mediated immune response to tumor cell

10663613

HgeneHSPD1

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

17823127

HgeneHSPD1

GO:0006986

response to unfolded protein

11050098

HgeneHSPD1

GO:0032727

positive regulation of interferon-alpha production

17164250

HgeneHSPD1

GO:0032729

positive regulation of interferon-gamma production

17164250

HgeneHSPD1

GO:0032733

positive regulation of interleukin-10 production

16148103

HgeneHSPD1

GO:0032735

positive regulation of interleukin-12 production

17164250

HgeneHSPD1

GO:0032755

positive regulation of interleukin-6 production

16148103

HgeneHSPD1

GO:0042026

protein refolding

11050098

HgeneHSPD1

GO:0042100

B cell proliferation

16148103

HgeneHSPD1

GO:0042110

T cell activation

15371451|17164250|18256040

HgeneHSPD1

GO:0042113

B cell activation

16148103

HgeneHSPD1

GO:0043032

positive regulation of macrophage activation

17164250

HgeneHSPD1

GO:0044406

adhesion of symbiont to host

20633027

HgeneHSPD1

GO:0048291

isotype switching to IgG isotypes

16148103

HgeneHSPD1

GO:0050870

positive regulation of T cell activation

16148103|17164250

TgeneALB

GO:0009267

cellular response to starvation

16245148

TgeneALB

GO:0043066

negative regulation of apoptotic process

16153637

TgeneALB

GO:0051659

maintenance of mitochondrion location

16153637



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
ChimerDB4LIHCTCGA-DD-A113-01AHSPD1chr2

198362085

-ALBchr4

74279217

+


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Fusion Gene ORF analysis for HSPD1-ALB

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-3CDSENST00000345042ENST00000295897HSPD1chr2

198362085

-ALBchr4

74279217

+
intron-3CDSENST00000345042ENST00000401494HSPD1chr2

198362085

-ALBchr4

74279217

+
intron-3CDSENST00000345042ENST00000415165HSPD1chr2

198362085

-ALBchr4

74279217

+
intron-3CDSENST00000345042ENST00000503124HSPD1chr2

198362085

-ALBchr4

74279217

+
intron-3CDSENST00000345042ENST00000509063HSPD1chr2

198362085

-ALBchr4

74279217

+
intron-3CDSENST00000388968ENST00000295897HSPD1chr2

198362085

-ALBchr4

74279217

+
intron-3CDSENST00000388968ENST00000401494HSPD1chr2

198362085

-ALBchr4

74279217

+
intron-3CDSENST00000388968ENST00000415165HSPD1chr2

198362085

-ALBchr4

74279217

+
intron-3CDSENST00000388968ENST00000503124HSPD1chr2

198362085

-ALBchr4

74279217

+
intron-3CDSENST00000388968ENST00000509063HSPD1chr2

198362085

-ALBchr4

74279217

+
intron-3CDSENST00000544407ENST00000295897HSPD1chr2

198362085

-ALBchr4

74279217

+
intron-3CDSENST00000544407ENST00000401494HSPD1chr2

198362085

-ALBchr4

74279217

+
intron-3CDSENST00000544407ENST00000415165HSPD1chr2

198362085

-ALBchr4

74279217

+
intron-3CDSENST00000544407ENST00000503124HSPD1chr2

198362085

-ALBchr4

74279217

+
intron-3CDSENST00000544407ENST00000509063HSPD1chr2

198362085

-ALBchr4

74279217

+
intron-3UTRENST00000345042ENST00000505649HSPD1chr2

198362085

-ALBchr4

74279217

+
intron-3UTRENST00000388968ENST00000505649HSPD1chr2

198362085

-ALBchr4

74279217

+
intron-3UTRENST00000544407ENST00000505649HSPD1chr2

198362085

-ALBchr4

74279217

+

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 HSPD1-ALB


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)


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Fusion Protein Features for HSPD1-ALB


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/:198362085/:74279217)
- 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

- 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 HSPD1-ALB


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 HSPD1-ALB


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 HSPD1-ALB


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 HSPD1-ALB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHSPD1C1854467Spastic paraplegia 13, autosomal dominant4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneHSPD1C2677109Leukodystrophy, Hypomyelinating, 44CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneHSPD1C0024623Malignant neoplasm of stomach2CTD_human
HgeneHSPD1C0038356Stomach Neoplasms2CTD_human
HgeneHSPD1C1708349Hereditary Diffuse Gastric Cancer2CTD_human
HgeneHSPD1C0001418Adenocarcinoma1CTD_human
HgeneHSPD1C0007134Renal Cell Carcinoma1CTD_human
HgeneHSPD1C0007194Hypertrophic Cardiomyopathy1CTD_human
HgeneHSPD1C0019693HIV Infections1CTD_human
HgeneHSPD1C0033141Cardiomyopathies, Primary1CTD_human
HgeneHSPD1C0036529Myocardial Diseases, Secondary1CTD_human
HgeneHSPD1C0205641Adenocarcinoma, Basal Cell1CTD_human
HgeneHSPD1C0205642Adenocarcinoma, Oxyphilic1CTD_human
HgeneHSPD1C0205643Carcinoma, Cribriform1CTD_human
HgeneHSPD1C0205644Carcinoma, Granular Cell1CTD_human
HgeneHSPD1C0205645Adenocarcinoma, Tubular1CTD_human
HgeneHSPD1C0238281Middle Cerebral Artery Syndrome1CTD_human
HgeneHSPD1C0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgeneHSPD1C0376618Endotoxemia1CTD_human
HgeneHSPD1C0740376Middle Cerebral Artery Thrombosis1CTD_human
HgeneHSPD1C0740391Middle Cerebral Artery Occlusion1CTD_human
HgeneHSPD1C0740392Infarction, Middle Cerebral Artery1CTD_human
HgeneHSPD1C0751845Middle Cerebral Artery Embolus1CTD_human
HgeneHSPD1C0751846Left Middle Cerebral Artery Infarction1CTD_human
HgeneHSPD1C0751847Embolic Infarction, Middle Cerebral Artery1CTD_human
HgeneHSPD1C0751848Thrombotic Infarction, Middle Cerebral Artery1CTD_human
HgeneHSPD1C0751849Right Middle Cerebral Artery Infarction1CTD_human
HgeneHSPD1C0878544Cardiomyopathies1CTD_human
HgeneHSPD1C0948089Acute Coronary Syndrome1CTD_human
HgeneHSPD1C1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneHSPD1C1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneHSPD1C1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneHSPD1C1306837Papillary Renal Cell Carcinoma1CTD_human
HgeneHSPD1C4505456HIV Coinfection1CTD_human
HgeneHSPD1C4551472Hypertrophic obstructive cardiomyopathy1CTD_human
TgeneC0033687Proteinuria9CTD_human
TgeneC0017658Glomerulonephritis8CTD_human
TgeneC0022658Kidney Diseases8CTD_human
TgeneC1704377Bright Disease8CTD_human
TgeneC0017665Membranous glomerulonephritis6CTD_human
TgeneC0027697Nephritis6CTD_human
TgeneC0086445Idiopathic Membranous Glomerulonephritis6CTD_human
TgeneC0342185Hyperthyroxinemia, Familial Dysalbuminemic6CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1704378Heymann Nephritis6CTD_human
TgeneC0022660Kidney Failure, Acute4CTD_human
TgeneC0027707Nephritis, Interstitial4CTD_human
TgeneC0038454Cerebrovascular accident4CTD_human
TgeneC0041349Nephritis, Tubulointerstitial4CTD_human
TgeneC0751956Acute Cerebrovascular Accidents4CTD_human
TgeneC1565662Acute Kidney Insufficiency4CTD_human
TgeneC2609414Acute kidney injury4CTD_human
TgeneC0023893Liver Cirrhosis, Experimental3CTD_human
TgeneC0025290Aseptic Meningitis3CTD_human
TgeneC0013221Drug toxicity2CTD_human
TgeneC0014544Epilepsy2CTD_human
TgeneC0019193Hepatitis, Toxic2CTD_human
TgeneC0020649Hypotension2CTD_human
TgeneC0023890Liver Cirrhosis2CTD_human
TgeneC0027726Nephrotic Syndrome2CTD_human
TgeneC0036830Serum Sickness2CTD_human
TgeneC0041755Adverse reaction to drug2CTD_human
TgeneC0086237Epilepsy, Cryptogenic2CTD_human
TgeneC0162557Liver Failure, Acute2CTD_human
TgeneC0236018Aura2CTD_human
TgeneC0239946Fibrosis, Liver2CTD_human
TgeneC0751111Awakening Epilepsy2CTD_human
TgeneC0860207Drug-Induced Liver Disease2CTD_human
TgeneC0878666Analbuminemia2ORPHANET
TgeneC1262760Hepatitis, Drug-Induced2CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury2CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury2CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity2CTD_human
TgeneC0002994Angioedema1CTD_human
TgeneC0003460Anuria1CTD_human
TgeneC0003865Arthritis, Adjuvant-Induced1CTD_human
TgeneC0004509Azoospermia1CTD_human
TgeneC0005398Cholestasis, Extrahepatic1CTD_human
TgeneC0006111Brain Diseases1CTD_human
TgeneC0007222Cardiovascular Diseases1CTD_human
TgeneC0007786Brain Ischemia1CTD_human
TgeneC0008312Primary biliary cirrhosis1CTD_human
TgeneC0011573Endogenous depression1CTD_human
TgeneC0011581Depressive disorder1CTD_human
TgeneC0011875Diabetic Angiopathies1CTD_human
TgeneC0011881Diabetic Nephropathy1CTD_human
TgeneC0013502Echinococcosis1CTD_human
TgeneC0014518Toxic Epidermal Necrolysis1CTD_human
TgeneC0016059Fibrosis1CTD_human
TgeneC0017662Glomerulonephritis, Membranoproliferative1CTD_human
TgeneC0017667Nodular glomerulosclerosis1CTD_human
TgeneC0018799Heart Diseases1CTD_human
TgeneC0018801Heart failure1CTD_human
TgeneC0018802Congestive heart failure1CTD_human
TgeneC0019061Hemolytic-Uremic Syndrome1CTD_human
TgeneC0019158Hepatitis1CTD_human
TgeneC0019209Hepatomegaly1CTD_human
TgeneC0019693HIV Infections1CTD_human
TgeneC0019699HIV Seropositivity1CTD_human
TgeneC0020517Hypersensitivity1CTD_human
TgeneC0020522Delayed Hypersensitivity1CTD_human
TgeneC0020538Hypertensive disease1CTD_human
TgeneC0022548Keloid1CTD_human
TgeneC0022661Kidney Failure, Chronic1CTD_human
TgeneC0023212Left-Sided Heart Failure1CTD_human
TgeneC0023892Biliary cirrhosis1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0025193Melancholia1CTD_human
TgeneC0025945Microangiopathy, Diabetic1CTD_human
TgeneC0026848Myopathy1CTD_human
TgeneC0027055Myocardial Reperfusion Injury1CTD_human
TgeneC0027720Nephrosis1CTD_human
TgeneC0028797Occupational Diseases1CTD_human
TgeneC0030193Pain1CTD_human
TgeneC0030286Pancreatic Diseases1CTD_human
TgeneC0030305Pancreatitis1CTD_human
TgeneC0035222Respiratory Distress Syndrome, Adult1CTD_human
TgeneC0035242Respiratory Tract Diseases1CTD_human
TgeneC0035457Rhinitis, Allergic, Perennial1CTD_human
TgeneC0038325Stevens-Johnson Syndrome1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0040034Thrombocytopenia1CTD_human
TgeneC0041696Unipolar Depression1CTD_human
TgeneC0042109Urticaria1CTD_human
TgeneC0042164Uveitis1CTD_human
TgeneC0085584Encephalopathies1CTD_human
TgeneC0086133Depressive Syndrome1CTD_human
TgeneC0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneC0234230Pain, Burning1CTD_human
TgeneC0234238Ache1CTD_human
TgeneC0234254Radiating pain1CTD_human
TgeneC0235527Heart Failure, Right-Sided1CTD_human
TgeneC0238065Secondary Biliary Cholangitis1CTD_human
TgeneC0239981Hypoalbuminemia1CTD_human
TgeneC0268742Membranoproliferative Glomerulonephritis, Type I1CTD_human
TgeneC0268743Membranoproliferative Glomerulonephritis, Type II1CTD_human
TgeneC0273115Lung Injury1CTD_human
TgeneC0282126Depression, Neurotic1CTD_human
TgeneC0458257Pain, Splitting1CTD_human
TgeneC0458259Pain, Crushing1CTD_human
TgeneC0751407Pain, Migratory1CTD_human
TgeneC0751408Suffering, Physical1CTD_human
TgeneC0917798Cerebral Ischemia1CTD_human
TgeneC0971858Arthritis, Collagen-Induced1CTD_human
TgeneC0993582Arthritis, Experimental1CTD_human
TgeneC1274933Drug-Induced Stevens Johnson Syndrome1CTD_human
TgeneC1306571Hepatic Insufficiency1CTD_human
TgeneC1527304Allergic Reaction1CTD_human
TgeneC1623038Cirrhosis1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC1720821Membranoproliferative Glomerulonephritis, Type III1CTD_human
TgeneC1959583Myocardial Failure1CTD_human
TgeneC1961112Heart Decompensation1CTD_human
TgeneC2350344Chronic Lung Injury1CTD_human
TgeneC3658301Mycoplasma-Induced Stevens-Johnson Syndrome1CTD_human
TgeneC3658302Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum1CTD_human
TgeneC4505456HIV Coinfection1CTD_human
TgeneC4551595Biliary Cirrhosis, Primary, 11CTD_human
TgeneC4553297Cystic Echinocccosis1CTD_human