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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:CASP8-NDUFB3 (FusionGDB2 ID:13286)

Fusion Gene Summary for CASP8-NDUFB3

check button Fusion gene summary
Fusion gene informationFusion gene name: CASP8-NDUFB3
Fusion gene ID: 13286
HgeneTgene
Gene symbol

CASP8

NDUFB3

Gene ID

841

4709

Gene namecaspase 8NADH:ubiquinone oxidoreductase subunit B3
SynonymsALPS2B|CAP4|Casp-8|FLICE|MACH|MCH5B12|CI-B12|MC1DN25
Cytomap

2q33.1

2q33.1

Type of geneprotein-codingprotein-coding
Descriptioncaspase-8FADD-homologous ICE/CED-3-like proteaseFADD-like ICEICE-like apoptotic protease 5MACH-alpha-1/2/3 proteinMACH-beta-1/2/3/4 proteinMORT1-associated ced-3 homologapoptotic cysteine proteaseapoptotic protease Mch-5caspase 8, apoptosis-relatNADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDaNADH-ubiquinone oxidoreductase B12 subunitcomplex I-B12
Modification date2020032220200313
UniProtAcc

Q14790

O43676

Ensembl transtripts involved in fusion geneENST00000392259, ENST00000392266, 
ENST00000264274, ENST00000432109, 
ENST00000264275, ENST00000392258, 
ENST00000490682, ENST00000358485, 
ENST00000323492, 		ENST00000237889, 
ENST00000433898, ENST00000454214, 
Fusion gene scores* DoF score10 X 7 X 10=7004 X 3 X 6=72
# samples 128
** MAII scorelog2(12/700*10)=-2.54432051622381
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/72*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CASP8 [Title/Abstract] AND NDUFB3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCASP8(202131514)-NDUFB3(201950182), # samples:1
CASP8(202098835)-NDUFB3(201950182), # samples:1
Anticipated loss of major functional domain due to fusion event.CASP8-NDUFB3 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
CASP8-NDUFB3 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
CASP8-NDUFB3 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
CASP8-NDUFB3 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
HgeneCASP8

GO:0006508

proteolysis

12888622

HgeneCASP8

GO:0036462

TRAIL-activated apoptotic signaling pathway

21785459

HgeneCASP8

GO:0045862

positive regulation of proteolysis

18387192

HgeneCASP8

GO:0097191

extrinsic apoptotic signaling pathway

21785459

HgeneCASP8

GO:0097202

activation of cysteine-type endopeptidase activity

18387192


check buttonFusion gene breakpoints across CASP8 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across NDUFB3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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-49-4514-01ACASP8chr2

202131514

+NDUFB3chr2

201950182

+
ChimerDB4STADTCGA-CD-A487-01ACASP8chr2

202098835

+NDUFB3chr2

201950182

+


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Fusion Gene ORF analysis for CASP8-NDUFB3

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
Frame-shiftENST00000392259ENST00000237889CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000392259ENST00000433898CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000392259ENST00000454214CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000392266ENST00000237889CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000392266ENST00000433898CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000392266ENST00000454214CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000264274ENST00000237889CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000264274ENST00000433898CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000264274ENST00000454214CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000432109ENST00000237889CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000432109ENST00000433898CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000432109ENST00000454214CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000264275ENST00000237889CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000264275ENST00000433898CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000264275ENST00000454214CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000392258ENST00000237889CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000392258ENST00000433898CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000392258ENST00000454214CASP8chr2

202131514

+NDUFB3chr2

201950182

+
intron-3CDSENST00000490682ENST00000237889CASP8chr2

202131514

+NDUFB3chr2

201950182

+
intron-3CDSENST00000490682ENST00000433898CASP8chr2

202131514

+NDUFB3chr2

201950182

+
intron-3CDSENST00000490682ENST00000454214CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000358485ENST00000237889CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000358485ENST00000433898CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000358485ENST00000454214CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000323492ENST00000237889CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000323492ENST00000433898CASP8chr2

202131514

+NDUFB3chr2

201950182

+
Frame-shiftENST00000323492ENST00000454214CASP8chr2

202131514

+NDUFB3chr2

201950182

+
5UTR-3CDSENST00000392259ENST00000237889CASP8chr2

202098835

+NDUFB3chr2

201950182

+
5UTR-3CDSENST00000392259ENST00000433898CASP8chr2

202098835

+NDUFB3chr2

201950182

+
5UTR-3CDSENST00000392259ENST00000454214CASP8chr2

202098835

+NDUFB3chr2

201950182

+
5UTR-3CDSENST00000392266ENST00000237889CASP8chr2

202098835

+NDUFB3chr2

201950182

+
5UTR-3CDSENST00000392266ENST00000433898CASP8chr2

202098835

+NDUFB3chr2

201950182

+
5UTR-3CDSENST00000392266ENST00000454214CASP8chr2

202098835

+NDUFB3chr2

201950182

+
5UTR-3CDSENST00000264274ENST00000237889CASP8chr2

202098835

+NDUFB3chr2

201950182

+
5UTR-3CDSENST00000264274ENST00000433898CASP8chr2

202098835

+NDUFB3chr2

201950182

+
5UTR-3CDSENST00000264274ENST00000454214CASP8chr2

202098835

+NDUFB3chr2

201950182

+
5UTR-3CDSENST00000432109ENST00000237889CASP8chr2

202098835

+NDUFB3chr2

201950182

+
5UTR-3CDSENST00000432109ENST00000433898CASP8chr2

202098835

+NDUFB3chr2

201950182

+
5UTR-3CDSENST00000432109ENST00000454214CASP8chr2

202098835

+NDUFB3chr2

201950182

+
5UTR-3CDSENST00000264275ENST00000237889CASP8chr2

202098835

+NDUFB3chr2

201950182

+
5UTR-3CDSENST00000264275ENST00000433898CASP8chr2

202098835

+NDUFB3chr2

201950182

+
5UTR-3CDSENST00000264275ENST00000454214CASP8chr2

202098835

+NDUFB3chr2

201950182

+
5UTR-3CDSENST00000392258ENST00000237889CASP8chr2

202098835

+NDUFB3chr2

201950182

+
5UTR-3CDSENST00000392258ENST00000433898CASP8chr2

202098835

+NDUFB3chr2

201950182

+
5UTR-3CDSENST00000392258ENST00000454214CASP8chr2

202098835

+NDUFB3chr2

201950182

+
3UTR-3CDSENST00000490682ENST00000237889CASP8chr2

202098835

+NDUFB3chr2

201950182

+
3UTR-3CDSENST00000490682ENST00000433898CASP8chr2

202098835

+NDUFB3chr2

201950182

+
3UTR-3CDSENST00000490682ENST00000454214CASP8chr2

202098835

+NDUFB3chr2

201950182

+
intron-3CDSENST00000358485ENST00000237889CASP8chr2

202098835

+NDUFB3chr2

201950182

+
intron-3CDSENST00000358485ENST00000433898CASP8chr2

202098835

+NDUFB3chr2

201950182

+
intron-3CDSENST00000358485ENST00000454214CASP8chr2

202098835

+NDUFB3chr2

201950182

+
intron-3CDSENST00000323492ENST00000237889CASP8chr2

202098835

+NDUFB3chr2

201950182

+
intron-3CDSENST00000323492ENST00000433898CASP8chr2

202098835

+NDUFB3chr2

201950182

+
intron-3CDSENST00000323492ENST00000454214CASP8chr2

202098835

+NDUFB3chr2

201950182

+

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 CASP8-NDUFB3


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)
CASP8chr2202131514+NDUFB3chr2201950181+8.58E-091
CASP8chr2202098835+NDUFB3chr2201950181+8.48E-111
CASP8chr2202131514+NDUFB3chr2201950181+8.58E-091
CASP8chr2202098835+NDUFB3chr2201950181+8.48E-111

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.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for CASP8-NDUFB3


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CASP8

Q14790

NDUFB3

O43676

FUNCTION: Thiol protease that plays a key role in programmed cell death by acting as a molecular switch for apoptosis, necroptosis and pyroptosis, and is required to prevent tissue damage during embryonic development and adulthood (By similarity). Initiator protease that induces extrinsic apoptosis by mediating cleavage and activation of effector caspases responsible for the TNFRSF6/FAS mediated and TNFRSF1A induced cell death (PubMed:23516580, PubMed:8681376, PubMed:8681377, PubMed:9006941, PubMed:9184224, PubMed:8962078). Cleaves and activates effector caspases CASP3, CASP4, CASP6, CASP7, CASP9 and CASP10 (PubMed:8962078, PubMed:9006941). Binding to the adapter molecule FADD recruits it to either receptor TNFRSF6/FAS mediated or TNFRSF1A (PubMed:8681376, PubMed:8681377). The resulting aggregate called death-inducing signaling complex (DISC) performs CASP8 proteolytic activation (PubMed:9184224). The active dimeric enzyme is then liberated from the DISC and free to activate downstream apoptotic proteases (PubMed:9184224). Proteolytic fragments of the N-terminal propeptide (termed CAP3, CAP5 and CAP6) are likely retained in the DISC (PubMed:9184224). In addition to extrinsic apoptosis, also acts as a negative regulator of necroptosis: acts by cleaving RIPK1 at 'Asp-324', which is crucial to inhibit RIPK1 kinase activity, limiting TNF-induced apoptosis, necroptosis and inflammatory response (PubMed:31827280, PubMed:31827281). Also able to initiate pyroptosis by mediating cleavage and activation of gasdermin-D (GSDMD): GSDMD cleavage promoting release of the N-terminal moiety (Gasdermin-D, N-terminal) that binds to membranes and forms pores, triggering pyroptosis (By similarity). Initiates pyroptosis following inactivation of MAP3K7/TAK1 (By similarity). Also acts as a regulator of innate immunity by mediating cleavage and inactivation of N4BP1 downstream of TLR3 or TLR4, thereby promoting cytokine production (By similarity). May participate in the Granzyme B (GZMB) cell death pathways (PubMed:8755496). Cleaves PARP1 (PubMed:8681376). {ECO:0000250|UniProtKB:O89110, ECO:0000269|PubMed:23516580, ECO:0000269|PubMed:31827280, ECO:0000269|PubMed:31827281, ECO:0000269|PubMed:8681376, ECO:0000269|PubMed:8681377, ECO:0000269|PubMed:8755496, ECO:0000269|PubMed:8962078, ECO:0000269|PubMed:9006941, ECO:0000269|PubMed:9184224}.; FUNCTION: [Isoform 5]: Lacks the catalytic site and may interfere with the pro-apoptotic activity of the complex. {ECO:0000305|PubMed:8681376}.; FUNCTION: [Isoform 6]: Lacks the catalytic site and may interfere with the pro-apoptotic activity of the complex. {ECO:0000305|PubMed:8681376}.; FUNCTION: [Isoform 7]: Lacks the catalytic site and may interfere with the pro-apoptotic activity of the complex (Probable). Acts as an inhibitor of the caspase cascade (PubMed:12010809). {ECO:0000269|PubMed:12010809, ECO:0000305|PubMed:8681376}.; FUNCTION: [Isoform 8]: Lacks the catalytic site and may interfere with the pro-apoptotic activity of the complex. {ECO:0000305|PubMed:8681376}.FUNCTION: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. {ECO:0000269|PubMed:27626371}.

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 CASP8-NDUFB3


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 CASP8-NDUFB3


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 CASP8-NDUFB3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneNDUFB3O43676DB00157NADHSmall moleculeApproved|Nutraceutical

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Related Diseases for CASP8-NDUFB3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCASP8C0006142Malignant neoplasm of breast4CGI;CTD_human
HgeneCASP8C0678222Breast Carcinoma4CGI;CTD_human
HgeneCASP8C1257931Mammary Neoplasms, Human4CTD_human
HgeneCASP8C1458155Mammary Neoplasms4CTD_human
HgeneCASP8C4704874Mammary Carcinoma, Human4CTD_human
HgeneCASP8C1846545Autoimmune Lymphoproliferative Syndrome Type 2B3CTD_human;ORPHANET;UNIPROT
HgeneCASP8C0014859Esophageal Neoplasms2CTD_human
HgeneCASP8C0025202melanoma2CTD_human
HgeneCASP8C0546837Malignant neoplasm of esophagus2CTD_human
HgeneCASP8C0001418Adenocarcinoma1CTD_human
HgeneCASP8C0005586Bipolar Disorder1PSYGENET
HgeneCASP8C0007114Malignant neoplasm of skin1CTD_human
HgeneCASP8C0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneCASP8C0007873Uterine Cervical Neoplasm1CTD_human
HgeneCASP8C0009402Colorectal Carcinoma1CTD_human
HgeneCASP8C0009404Colorectal Neoplasms1CTD_human
HgeneCASP8C0011616Contact Dermatitis1CTD_human
HgeneCASP8C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneCASP8C0013604Edema1CTD_human
HgeneCASP8C0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
HgeneCASP8C0023453L2 Acute Lymphoblastic Leukemia1CTD_human
HgeneCASP8C0024121Lung Neoplasms1CTD_human
HgeneCASP8C0024623Malignant neoplasm of stomach1CTD_human
HgeneCASP8C0027055Myocardial Reperfusion Injury1CTD_human
HgeneCASP8C0035126Reperfusion Injury1CTD_human
HgeneCASP8C0037286Skin Neoplasms1CTD_human
HgeneCASP8C0038220Status Epilepticus1CTD_human
HgeneCASP8C0038356Stomach Neoplasms1CTD_human
HgeneCASP8C0151603Anasarca1CTD_human
HgeneCASP8C0162351Contact hypersensitivity1CTD_human
HgeneCASP8C0162820Dermatitis, Allergic Contact1CTD_human
HgeneCASP8C0205641Adenocarcinoma, Basal Cell1CTD_human
HgeneCASP8C0205642Adenocarcinoma, Oxyphilic1CTD_human
HgeneCASP8C0205643Carcinoma, Cribriform1CTD_human
HgeneCASP8C0205644Carcinoma, Granular Cell1CTD_human
HgeneCASP8C0205645Adenocarcinoma, Tubular1CTD_human
HgeneCASP8C0242379Malignant neoplasm of lung1CTD_human
HgeneCASP8C0270823Petit mal status1CTD_human
HgeneCASP8C0279607Adult Hepatocellular Carcinoma1ORPHANET
HgeneCASP8C0311335Grand Mal Status Epilepticus1CTD_human
HgeneCASP8C0343641Human papilloma virus infection1CTD_human
HgeneCASP8C0393734Complex Partial Status Epilepticus1CTD_human
HgeneCASP8C0751522Status Epilepticus, Subclinical1CTD_human
HgeneCASP8C0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneCASP8C0751524Simple Partial Status Epilepticus1CTD_human
HgeneCASP8C1168401Squamous cell carcinoma of the head and neck1CTD_human
HgeneCASP8C1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneCASP8C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
HgeneCASP8C2931456Prostate cancer, familial1CTD_human
HgeneCASP8C2937358Cerebral Hemorrhage1CTD_human
HgeneCASP8C4048328cervical cancer1CTD_human
HgeneCASP8C4722327PROSTATE CANCER, HEREDITARY, 11CTD_human
TgeneNDUFB3C1838979MITOCHONDRIAL COMPLEX I DEFICIENCY3GENOMICS_ENGLAND;ORPHANET
TgeneNDUFB3C4748806MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 252GENOMICS_ENGLAND;UNIPROT