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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:SFTPB-C3 (FusionGDB2 ID:HG6439TG718)

Fusion Gene Summary for SFTPB-C3

check button Fusion gene summary
Fusion gene informationFusion gene name: SFTPB-C3
Fusion gene ID: hg6439tg718
HgeneTgene
Gene symbol

SFTPB

C3

Gene ID

6439

718

Gene namesurfactant protein Bcomplement C3
SynonymsPSP-B|SFTB3|SFTP3|SMDP1|SP-BAHUS5|ARMD9|ASP|C3a|C3b|CPAMD1|HEL-S-62p
Cytomap('SFTPB')('C3')

2p11.2

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionpulmonary surfactant-associated protein B18 kDa pulmonary-surfactant protein6 kDa proteinpulmonary surfactant-associated proteolipid SPL(Phe)complement C3C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1C3a anaphylatoxinacylation-stimulating protein cleavage productcomplement component 3complement component C3acomplement component C3bepididymis secretory sperm binding pr
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000342375, ENST00000393822, 
ENST00000409383, ENST00000519937, 
Fusion gene scores* DoF score23 X 22 X 3=151822 X 20 X 8=3520
# samples 2722
** MAII scorelog2(27/1518*10)=-2.49114047836464
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(22/3520*10)=-4
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SFTPB [Title/Abstract] AND C3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSFTPB(85892412)-C3(6696670), # samples:1
Anticipated loss of major functional domain due to fusion event.SFTPB-C3 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.
SFTPB-C3 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.
SFTPB-C3 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.
SFTPB-C3 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.
SFTPB-C3 seems lost the major protein functional domain in Tgene partner, which is a essential 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneC3

GO:0001934

positive regulation of protein phosphorylation

15833747

TgeneC3

GO:0010575

positive regulation of vascular endothelial growth factor production

16452172

TgeneC3

GO:0010828

positive regulation of glucose transmembrane transport

9059512|15833747

TgeneC3

GO:0010866

regulation of triglyceride biosynthetic process

10432298

TgeneC3

GO:0010884

positive regulation of lipid storage

9555951

TgeneC3

GO:0045745

positive regulation of G protein-coupled receptor signaling pathway

15833747


check buttonFusion gene breakpoints across SFTPB (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 C3 (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 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
ChimerDB4LUADTCGA-78-7161-01ASFTPBchr2

85892412

-C3chr19

6696670

-


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Fusion Gene ORF analysis for SFTPB-C3

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
5CDS-intronENST00000342375ENST00000599668SFTPBchr2

85892412

-C3chr19

6696670

-
5CDS-intronENST00000393822ENST00000599668SFTPBchr2

85892412

-C3chr19

6696670

-
5CDS-intronENST00000409383ENST00000599668SFTPBchr2

85892412

-C3chr19

6696670

-
5CDS-intronENST00000519937ENST00000599668SFTPBchr2

85892412

-C3chr19

6696670

-
Frame-shiftENST00000342375ENST00000245907SFTPBchr2

85892412

-C3chr19

6696670

-
Frame-shiftENST00000393822ENST00000245907SFTPBchr2

85892412

-C3chr19

6696670

-
Frame-shiftENST00000409383ENST00000245907SFTPBchr2

85892412

-C3chr19

6696670

-
In-frameENST00000519937ENST00000245907SFTPBchr2

85892412

-C3chr19

6696670

-

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)
ENST00000519937SFTPBchr285892412-ENST00000245907C3chr196696670-3066692202887955

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
ENST00000519937ENST00000245907SFTPBchr285892412-C3chr196696670-0.004392290.9956077

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Fusion Genomic Features for SFTPB-C3


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 SFTPB-C3


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/chr2:85892412/chr19:6696670)
- 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
HgeneSFTPBchr2:85892412chr19:6696670ENST00000342375-71225_652241129.3333333333333DomainSaposin A-type
HgeneSFTPBchr2:85892412chr19:6696670ENST00000342375-71265_1472241129.3333333333333DomainSaposin B-type 1
HgeneSFTPBchr2:85892412chr19:6696670ENST00000519937-61125_652241127.3333333333333DomainSaposin A-type
HgeneSFTPBchr2:85892412chr19:6696670ENST00000519937-61165_1472241127.3333333333333DomainSaposin B-type 1
TgeneC3chr2:85892412chr19:6696670ENST0000024590720411518_16619321664.0DomainNTR

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSFTPBchr2:85892412chr19:6696670ENST00000342375-712204_2812241129.3333333333333DomainSaposin B-type 2
HgeneSFTPBchr2:85892412chr19:6696670ENST00000342375-712295_3702241129.3333333333333DomainSaposin B-type 3
HgeneSFTPBchr2:85892412chr19:6696670ENST00000519937-611204_2812241127.3333333333333DomainSaposin B-type 2
HgeneSFTPBchr2:85892412chr19:6696670ENST00000519937-611295_3702241127.3333333333333DomainSaposin B-type 3
TgeneC3chr2:85892412chr19:6696670ENST000002459072041693_7289321664.0DomainAnaphylatoxin-like


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Fusion Gene Sequence for SFTPB-C3


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.
>81184_81184_1_SFTPB-C3_SFTPB_chr2_85892412_ENST00000519937_C3_chr19_6696670_ENST00000245907_length(transcript)=3066nt_BP=692nt
ACCCAGGCTGCAGAGGTGCCATGGCTGAGTCACACCTGCTGCAGTGGCTGCTGCTGCTGCTGCCCACGCTCTGTGGCCCAGGCACTGCTG
CCTGGACCACCTCATCCTTGGCCTGTGCCCAGGGCCCTGAGTTCTGGTGCCAAAGCCTGGAGCAAGCATTGCAGTGCAGAGCCCTAGGGC
ATTGCCTACAGGAAGTCTGGGGACATGTGGGAGCCGATGACCTATGCCAAGAGTGTGAGGACATCGTCCACATCCTTAACAAGATGGCCA
AGGAGGCCATTTTCCAGGACACGATGAGGAAGTTCCTGGAGCAGGAGTGCAACGTCCTCCCCTTGAAGCTGCTCATGCCCCAGTGCAACC
AAGTGCTTGACGACTACTTCCCCCTGGTCATCGACTACTTCCAGAACCAGACTGACTCAAACGGCATCTGTATGCACCTGGGCCTGTGCA
AATCCCGGCAGCCAGAGCCAGAGCAGGAGCCAGGGATGTCAGACCCCCTGCCCAAACCTCTGCGGGACCCTCTGCCAGACCCTCTGCTGG
ACAAGCTCGTCCTCCCTGTGCTGCCCGGGGCCCTCCAGGCGAGGCCTGGGCCTCACACACAGGATCTCTCCGAGCAGCAATTCCCCATTC
CTCTCCCCTATTGCTGGCTCTGCAGGGCTCTGATCAAGCGGATCCAAGCCATGATTCCCAAGCCGGAAGGAATCAGAATGAACAAAACTG
TGGCTGTTCGCACCCTGGATCCAGAACGCCTGGGCCGTGAAGGAGTGCAGAAAGAGGACATCCCACCTGCAGACCTCAGTGACCAAGTCC
CGGACACCGAGTCTGAGACCAGAATTCTCCTGCAAGGGACCCCAGTGGCCCAGATGACAGAGGATGCCGTCGACGCGGAACGGCTGAAGC
ACCTCATTGTGACCCCCTCGGGCTGCGGGGAACAGAACATGATCGGCATGACGCCCACGGTCATCGCTGTGCATTACCTGGATGAAACGG
AGCAGTGGGAGAAGTTCGGCCTAGAGAAGCGGCAGGGGGCCTTGGAGCTCATCAAGAAGGGGTACACCCAGCAGCTGGCCTTCAGACAAC
CCAGCTCTGCCTTTGCGGCCTTCGTGAAACGGGCACCCAGCACCTGGCTGACCGCCTACGTGGTCAAGGTCTTCTCTCTGGCTGTCAACC
TCATCGCCATCGACTCCCAAGTCCTCTGCGGGGCTGTTAAATGGCTGATCCTGGAGAAGCAGAAGCCCGACGGGGTCTTCCAGGAGGATG
CGCCCGTGATACACCAAGAAATGATTGGTGGATTACGGAACAACAACGAGAAAGACATGGCCCTCACGGCCTTTGTTCTCATCTCGCTGC
AGGAGGCTAAAGATATTTGCGAGGAGCAGGTCAACAGCCTGCCAGGCAGCATCACTAAAGCAGGAGACTTCCTTGAAGCCAACTACATGA
ACCTACAGAGATCCTACACTGTGGCCATTGCTGGCTATGCTCTGGCCCAGATGGGCAGGCTGAAGGGGCCTCTTCTTAACAAATTTCTGA
CCACAGCCAAAGATAAGAACCGCTGGGAGGACCCTGGTAAGCAGCTCTACAACGTGGAGGCCACATCCTATGCCCTCTTGGCCCTACTGC
AGCTAAAAGACTTTGACTTTGTGCCTCCCGTCGTGCGTTGGCTCAATGAACAGAGATACTACGGTGGTGGCTATGGCTCTACCCAGGCCA
CCTTCATGGTGTTCCAAGCCTTGGCTCAATACCAAAAGGACGCCCCTGACCACCAGGAACTGAACCTTGATGTGTCCCTCCAACTGCCCA
GCCGCAGCTCCAAGATCACCCACCGTATCCACTGGGAATCTGCCAGCCTCCTGCGATCAGAAGAGACCAAGGAAAATGAGGGTTTCACAG
TCACAGCTGAAGGAAAAGGCCAAGGCACCTTGTCGGTGGTGACAATGTACCATGCTAAGGCCAAAGATCAACTCACCTGTAATAAATTCG
ACCTCAAGGTCACCATAAAACCAGCACCGGAAACAGAAAAGAGGCCTCAGGATGCCAAGAACACTATGATCCTTGAGATCTGTACCAGGT
ACCGGGGAGACCAGGATGCCACTATGTCTATATTGGACATATCCATGATGACTGGCTTTGCTCCAGACACAGATGACCTGAAGCAGCTGG
CCAATGGTGTTGACAGATACATCTCCAAGTATGAGCTGGACAAAGCCTTCTCCGATAGGAACACCCTCATCATCTACCTGGACAAGGTCT
CACACTCTGAGGATGACTGTCTAGCTTTCAAAGTTCACCAATACTTTAATGTAGAGCTTATCCAGCCTGGAGCAGTCAAGGTCTACGCCT
ATTACAACCTGGAGGAAAGCTGTACCCGGTTCTACCATCCGGAAAAGGAGGATGGAAAGCTGAACAAGCTCTGCCGTGATGAACTGTGCC
GCTGTGCTGAGGAGAATTGCTTCATACAAAAGTCGGATGACAAGGTCACCCTGGAAGAACGGCTGGACAAGGCCTGTGAGCCAGGAGTGG
ACTATGTGTACAAGACCCGACTGGTCAAGGTTCAGCTGTCCAATGACTTTGACGAGTACATCATGGCCATTGAGCAGACCATCAAGTCAG
GCTCGGATGAGGTGCAGGTTGGACAGCAGCGCACGTTCATCAGCCCCATCAAGTGCAGAGAAGCCCTGAAGCTGGAGGAGAAGAAACACT
ACCTCATGTGGGGTCTCTCCTCCGATTTCTGGGGAGAGAAGCCCAACCTCAGCTACATCATCGGGAAGGACACTTGGGTGGAGCACTGGC
CCGAGGAGGACGAATGCCAAGACGAAGAGAACCAGAAACAATGCCAGGACCTCGGCGCCTTCACCGAGAGCATGGTTGTCTTTGGGTGCC
CCAACTGACCACACCCCCATTCCCCCACTCCAGATAAAGCTTCAGTTATATCTCACGTGTCTGGAGTTCTTTGCCAAGAGGGAGAGGCTG
AAATCCCCAGCCGCCTCACCTGCAGCTCAGCTCCATCCTACTTGAAACCTCACCTGTTCCCACCGCATTTTCTCCTGGCGTTCGCCTGCT

>81184_81184_1_SFTPB-C3_SFTPB_chr2_85892412_ENST00000519937_C3_chr19_6696670_ENST00000245907_length(amino acids)=955AA_BP=224
MAESHLLQWLLLLLPTLCGPGTAAWTTSSLACAQGPEFWCQSLEQALQCRALGHCLQEVWGHVGADDLCQECEDIVHILNKMAKEAIFQD
TMRKFLEQECNVLPLKLLMPQCNQVLDDYFPLVIDYFQNQTDSNGICMHLGLCKSRQPEPEQEPGMSDPLPKPLRDPLPDPLLDKLVLPV
LPGALQARPGPHTQDLSEQQFPIPLPYCWLCRALIKRIQAMIPKPEGIRMNKTVAVRTLDPERLGREGVQKEDIPPADLSDQVPDTESET
RILLQGTPVAQMTEDAVDAERLKHLIVTPSGCGEQNMIGMTPTVIAVHYLDETEQWEKFGLEKRQGALELIKKGYTQQLAFRQPSSAFAA
FVKRAPSTWLTAYVVKVFSLAVNLIAIDSQVLCGAVKWLILEKQKPDGVFQEDAPVIHQEMIGGLRNNNEKDMALTAFVLISLQEAKDIC
EEQVNSLPGSITKAGDFLEANYMNLQRSYTVAIAGYALAQMGRLKGPLLNKFLTTAKDKNRWEDPGKQLYNVEATSYALLALLQLKDFDF
VPPVVRWLNEQRYYGGGYGSTQATFMVFQALAQYQKDAPDHQELNLDVSLQLPSRSSKITHRIHWESASLLRSEETKENEGFTVTAEGKG
QGTLSVVTMYHAKAKDQLTCNKFDLKVTIKPAPETEKRPQDAKNTMILEICTRYRGDQDATMSILDISMMTGFAPDTDDLKQLANGVDRY
ISKYELDKAFSDRNTLIIYLDKVSHSEDDCLAFKVHQYFNVELIQPGAVKVYAYYNLEESCTRFYHPEKEDGKLNKLCRDELCRCAEENC
FIQKSDDKVTLEERLDKACEPGVDYVYKTRLVKVQLSNDFDEYIMAIEQTIKSGSDEVQVGQQRTFISPIKCREALKLEEKKHYLMWGLS

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

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Fusion Gene PPI Analysis for SFTPB-C3


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
TgeneC3chr2:85892412chr19:6696670ENST0000024590720411634_1659932.01664.0CFP/properdin


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 SFTPB-C3


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 SFTPB-C3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSFTPBC1968602Surfactant Metabolism Dysfunction, Pulmonary, 14CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneSFTPBC0019284Diaphragmatic Hernia2CTD_human
HgeneSFTPBC0020192Hyaline Membrane Disease1ORPHANET
HgeneSFTPBC0024115Lung diseases1CTD_human
HgeneSFTPBC0024121Lung Neoplasms1CTD_human
HgeneSFTPBC0035220Respiratory Distress Syndrome, Newborn1ORPHANET
HgeneSFTPBC0242379Malignant neoplasm of lung1CTD_human
HgeneSFTPBC0852283Respiratory Distress Syndrome1ORPHANET
TgeneC3151071COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0242383Age related macular degeneration4CTD_human;GENOMICS_ENGLAND
TgeneC2752037HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 54GENOMICS_ENGLAND;UNIPROT
TgeneC1969651Macular Degeneration, Age-Related, 92CTD_human;UNIPROT
TgeneC0003257Antibody Deficiency Syndrome1CTD_human
TgeneC0007787Transient Ischemic Attack1CTD_human
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC0013221Drug toxicity1CTD_human
TgeneC0017665Membranous glomerulonephritis1CTD_human
TgeneC0019061Hemolytic-Uremic Syndrome1GENOMICS_ENGLAND
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0021051Immunologic Deficiency Syndromes1CTD_human
TgeneC0021655Insulin Resistance1CTD_human
TgeneC0022660Kidney Failure, Acute1CTD_human
TgeneC0030524Paratuberculosis1CTD_human
TgeneC0030807Pemphigus1CTD_human
TgeneC0030809Pemphigus Vulgaris1CTD_human
TgeneC0034152Henoch-Schoenlein Purpura1CTD_human
TgeneC0041755Adverse reaction to drug1CTD_human
TgeneC0042386Vasculitis, Hemorrhagic1CTD_human
TgeneC0086445Idiopathic Membranous Glomerulonephritis1CTD_human
TgeneC0086922Rheumatoid Purpura1CTD_human
TgeneC0238281Middle Cerebral Artery Syndrome1CTD_human
TgeneC0242461Purpura, Nonthrombocytopenic1CTD_human
TgeneC0263313Pemphigus Foliaceus1CTD_human
TgeneC0272242Complement deficiency disease1GENOMICS_ENGLAND
TgeneC0376362Purpura Hemorrhagica1CTD_human
TgeneC0472381Posterior Circulation Transient Ischemic Attack1CTD_human
TgeneC0740376Middle Cerebral Artery Thrombosis1CTD_human
TgeneC0740391Middle Cerebral Artery Occlusion1CTD_human
TgeneC0740392Infarction, Middle Cerebral Artery1CTD_human
TgeneC0751019Carotid Circulation Transient Ischemic Attack1CTD_human
TgeneC0751020Transient Ischemic Attack, Vertebrobasilar Circulation1CTD_human
TgeneC0751021Crescendo Transient Ischemic Attacks1CTD_human
TgeneC0751022Brain Stem Ischemia, Transient1CTD_human
TgeneC0751845Middle Cerebral Artery Embolus1CTD_human
TgeneC0751846Left Middle Cerebral Artery Infarction1CTD_human
TgeneC0751847Embolic Infarction, Middle Cerebral Artery1CTD_human
TgeneC0751848Thrombotic Infarction, Middle Cerebral Artery1CTD_human
TgeneC0751849Right Middle Cerebral Artery Infarction1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC0917805Transient Cerebral Ischemia1CTD_human
TgeneC0920563Insulin Sensitivity1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC1332655Complement component 3 deficiency1GENOMICS_ENGLAND
TgeneC1527335Transient Ischemic Attack, Anterior Circulation1CTD_human
TgeneC1565662Acute Kidney Insufficiency1CTD_human
TgeneC1704378Heymann Nephritis1CTD_human
TgeneC2609414Acute kidney injury1CTD_human
TgeneC2931788Atypical Hemolytic Uremic Syndrome1CTD_human;GENOMICS_ENGLAND
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC4087273C3 glomerulopathy1GENOMICS_ENGLAND
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human