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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:ZNF791-ETHE1 (FusionGDB2 ID:102266)

Fusion Gene Summary for ZNF791-ETHE1

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNF791-ETHE1
Fusion gene ID: 102266
HgeneTgene
Gene symbol

ZNF791

ETHE1

Gene ID

163049

23474

Gene namezinc finger protein 791ETHE1 persulfide dioxygenase
Synonyms-HSCO|YF13H12
Cytomap

19p13.13

19q13.31

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 791persulfide dioxygenase ETHE1, mitochondrialethylmalonic encephalopathy 1hepatoma subtracted clone one proteinprotein ETHE1, mitochondrialsulfur dioxygenase ETHE1
Modification date2020031320200313
UniProtAcc.

O95571

Ensembl transtripts involved in fusion geneENST00000446165, ENST00000343325, 
ENST00000458122, ENST00000540038, 
ENST00000498389, 		ENST00000292147, 
ENST00000600651, 
Fusion gene scores* DoF score7 X 5 X 5=17511 X 2 X 7=154
# samples 912
** MAII scorelog2(9/175*10)=-0.959358015502654
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/154*10)=-0.359895945086383
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZNF791 [Title/Abstract] AND ETHE1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointZNF791(12721896)-ETHE1(44015718), # samples:4
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
TgeneETHE1

GO:0006749

glutathione metabolic process

23144459

TgeneETHE1

GO:0070813

hydrogen sulfide metabolic process

23144459


check buttonFusion gene breakpoints across ZNF791 (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 ETHE1 (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
ChimerDB4OVTCGA-24-1558-01AZNF791chr19

12721896

+ETHE1chr19

44015718

-
ChimerDB4OVTCGA-24-1558ZNF791chr19

12721896

+ETHE1chr19

44015718

-
ChimerDB4OVTCGA-24-1558-01AZNF791chr19

12721896

+ETHE1chr19

44015718

-
ChimerDB4OVTCGA-24-1558-01AZNF791chr19

12725016

+ETHE1chr19

44015718

-
ChimerDB4OVTCGA-24-1558-01AZNF791chr19

12721896

-ETHE1chr19

44015718

-


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Fusion Gene ORF analysis for ZNF791-ETHE1

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
In-frameENST00000446165ENST00000292147ZNF791chr19

12721896

+ETHE1chr19

44015718

-
In-frameENST00000446165ENST00000600651ZNF791chr19

12721896

+ETHE1chr19

44015718

-
In-frameENST00000343325ENST00000292147ZNF791chr19

12721896

+ETHE1chr19

44015718

-
In-frameENST00000343325ENST00000600651ZNF791chr19

12721896

+ETHE1chr19

44015718

-
5UTR-3CDSENST00000458122ENST00000292147ZNF791chr19

12721896

+ETHE1chr19

44015718

-
5UTR-3CDSENST00000458122ENST00000600651ZNF791chr19

12721896

+ETHE1chr19

44015718

-
5UTR-3CDSENST00000540038ENST00000292147ZNF791chr19

12721896

+ETHE1chr19

44015718

-
5UTR-3CDSENST00000540038ENST00000600651ZNF791chr19

12721896

+ETHE1chr19

44015718

-
3UTR-3CDSENST00000498389ENST00000292147ZNF791chr19

12721896

+ETHE1chr19

44015718

-
3UTR-3CDSENST00000498389ENST00000600651ZNF791chr19

12721896

+ETHE1chr19

44015718

-
intron-3CDSENST00000446165ENST00000292147ZNF791chr19

12725016

+ETHE1chr19

44015718

-
intron-3CDSENST00000446165ENST00000600651ZNF791chr19

12725016

+ETHE1chr19

44015718

-
intron-3CDSENST00000343325ENST00000292147ZNF791chr19

12725016

+ETHE1chr19

44015718

-
intron-3CDSENST00000343325ENST00000600651ZNF791chr19

12725016

+ETHE1chr19

44015718

-
intron-3CDSENST00000458122ENST00000292147ZNF791chr19

12725016

+ETHE1chr19

44015718

-
intron-3CDSENST00000458122ENST00000600651ZNF791chr19

12725016

+ETHE1chr19

44015718

-
intron-3CDSENST00000540038ENST00000292147ZNF791chr19

12725016

+ETHE1chr19

44015718

-
intron-3CDSENST00000540038ENST00000600651ZNF791chr19

12725016

+ETHE1chr19

44015718

-
intron-3CDSENST00000498389ENST00000292147ZNF791chr19

12725016

+ETHE1chr19

44015718

-
intron-3CDSENST00000498389ENST00000600651ZNF791chr19

12725016

+ETHE1chr19

44015718

-

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)
ENST00000446165ZNF791chr1912721896+ENST00000292147ETHE1chr1944015718-686165162554130
ENST00000446165ZNF791chr1912721896+ENST00000600651ETHE1chr1944015718-818165162572136
ENST00000343325ZNF791chr1912721896+ENST00000292147ETHE1chr1944015718-686165162554130
ENST00000343325ZNF791chr1912721896+ENST00000600651ETHE1chr1944015718-818165162572136

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
ENST00000446165ENST00000292147ZNF791chr1912721896+ETHE1chr1944015718-0.0852815960.9147184
ENST00000446165ENST00000600651ZNF791chr1912721896+ETHE1chr1944015718-0.246171360.75382864
ENST00000343325ENST00000292147ZNF791chr1912721896+ETHE1chr1944015718-0.0852815960.9147184
ENST00000343325ENST00000600651ZNF791chr1912721896+ETHE1chr1944015718-0.246171360.75382864

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Fusion Genomic Features for ZNF791-ETHE1


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.

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 ZNF791-ETHE1


check button Go to

FGviewer for the breakpoints of chr19:12721896-chr19:44015718

.
- 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
.ETHE1

O95571

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Sulfur dioxygenase that plays an essential role in hydrogen sulfide catabolism in the mitochondrial matrix. Hydrogen sulfide (H(2)S) is first oxidized by SQRDL, giving rise to cysteine persulfide residues. ETHE1 consumes molecular oxygen to catalyze the oxidation of the persulfide, once it has been transferred to a thiophilic acceptor, such as glutathione (R-SSH). Plays an important role in metabolic homeostasis in mitochondria by metabolizing hydrogen sulfide and preventing the accumulation of supraphysiological H(2)S levels that have toxic effects, due to the inhibition of cytochrome c oxidase. First described as a protein that can shuttle between the nucleus and the cytoplasm and suppress p53-induced apoptosis by sequestering the transcription factor RELA/NFKB3 in the cytoplasm and preventing its accumulation in the nucleus (PubMed:12398897). {ECO:0000269|PubMed:12398897, ECO:0000269|PubMed:14732903, ECO:0000269|PubMed:19136963, ECO:0000269|PubMed:23144459}.

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
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+144_901.0577.0DomainKRAB
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14100_1221.0577.0Zinc fingerC2H2-type 1
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14132_1541.0577.0Zinc fingerC2H2-type 2
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14160_1821.0577.0Zinc fingerC2H2-type 3
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14188_2101.0577.0Zinc fingerC2H2-type 4
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14216_2381.0577.0Zinc fingerC2H2-type 5
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14244_2661.0577.0Zinc fingerC2H2-type 6
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14272_2941.0577.0Zinc fingerC2H2-type 7
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14300_3221.0577.0Zinc fingerC2H2-type 8
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14328_3501.0577.0Zinc fingerC2H2-type 9
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14356_3781.0577.0Zinc fingerC2H2-type 10
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14384_4061.0577.0Zinc fingerC2H2-type 11
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14412_4341.0577.0Zinc fingerC2H2-type 12
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14440_4621.0577.0Zinc fingerC2H2-type 13
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14468_4901.0577.0Zinc fingerC2H2-type 14
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14496_5181.0577.0Zinc fingerC2H2-type 15
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14524_5461.0577.0Zinc fingerC2H2-type 16
HgeneZNF791chr19:12721896chr19:44015718ENST00000343325+14552_5741.0577.0Zinc fingerC2H2-type 17


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Fusion Gene Sequence for ZNF791-ETHE1


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.
>In-frame_ENST00000446165_ENST00000292147_TCGA-24-1558-01A_ZNF791_chr19_12721896_+_ETHE1_chr19_44015718_length(transcript)=686nt_BP=165nt
GCAAATGCGTGCTACGTCACTGTGCGATCGGGTTGTGCTTAGCTTGGGGTCTCCTGGCCCCTTGACGCGTCAGGTTGCTGTACCCCTGCA
TCGGATGCGCTGTACCCTGCGCTGGCTCCGTGAACCTTAGGGACAACACCGGGACACCCGCGAGGCCGGAAAATGGCGTTGGAGACCAGG
GCCAGCCCTGGCCACACCCCAGGCTGTGTCACCTTCGTCCTGAATGACCACAGCATGGCCTTCACTGGAGATGCCCTGTTGATCCGTGGG
TGTGGGCGGACAGACTTCCAGCAAGGCTGTGCCAAGACCTTGTACCACTCGGTCCATGAAAAGATCTTCACACTTCCAGGAGACTGTCTG
ATCTACCCTGCTCACGATTACCATGGGTTCACAGTGTCCACCGTGGAGGAGGAGAGGACTCTGAACCCTCGGCTCACCCTCAGCTGTGAG
GAGTTTGTCAAAATCATGGGCAACCTGAACTTGCCTAAACCTCAGCAGATAGACTTTGCTGTTCCAGCCAACATGCGCTGTGGGGTGCAG
ACACCCACTGCCTGATCTCACTTCTGTCAGATGCTCCCATCCACTATTAATGCACTAGGTGGGAGGAGAGGGCGGCAATGACACTGCACC

>In-frame_ENST00000446165_ENST00000292147_TCGA-24-1558-01A_ZNF791_chr19_12721896_+_ETHE1_chr19_44015718_length(amino acids)=130AA_start in transcript=162_stop in transcript=554
MALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPR

--------------------------------------------------------------
>In-frame_ENST00000446165_ENST00000600651_TCGA-24-1558-01A_ZNF791_chr19_12721896_+_ETHE1_chr19_44015718_length(transcript)=818nt_BP=165nt
GCAAATGCGTGCTACGTCACTGTGCGATCGGGTTGTGCTTAGCTTGGGGTCTCCTGGCCCCTTGACGCGTCAGGTTGCTGTACCCCTGCA
TCGGATGCGCTGTACCCTGCGCTGGCTCCGTGAACCTTAGGGACAACACCGGGACACCCGCGAGGCCGGAAAATGGCGTTGGAGACCAGG
GCCAGCCCTGGCCACACCCCAGGCTGTGTCACCTTCGTCCTGAATGACCACAGCATGGCCTTCACTGGAGATGCCCTGTTGATCCGTGGG
TGTGGGCGGACAGACTTCCAGCAAGGCTGTGCCAAGACCTTGTACCACTCGGTCCATGAAAAGATCTTCACACTTCCAGGAGACTGTCTG
ATCTACCCTGCTCACGATTACCATGGGTTCACAGTGTCCACCGTGGAGGAGGAGAGGACTCTGAACCCTCGGCTCACCCTCAGCTGTGAG
GAGTTTGTCAAAATCATGGGCAACCTGAACTTGCCTAAACCTCAGCAGATAGGTGAGCAGCTGGGGACCTGGACTTCTGGGTCTGAGAGA
GGAGGGGCTGGGGTCTTGGACTCCTGGGTCTGAGAGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCC
TGGACTCCTGGGTCTGAGGGAGGAGAGGCTGGGGGCCTGGACTCCTGGGTCTAAGGGAGGAGGGGCTGGGGGACTGGACTCCTGGGTCTG
AGGCAGTAGGGGCTGGGGGCCTGGACTCCTGGCTCTGAGGGAGTAGGGGCTGGGCTGGGGGCCTGGGCTCCTGAGTCTGAGGGAGGAGGG

>In-frame_ENST00000446165_ENST00000600651_TCGA-24-1558-01A_ZNF791_chr19_12721896_+_ETHE1_chr19_44015718_length(amino acids)=136AA_start in transcript=162_stop in transcript=572
MALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPR

--------------------------------------------------------------
>In-frame_ENST00000343325_ENST00000292147_TCGA-24-1558-01A_ZNF791_chr19_12721896_+_ETHE1_chr19_44015718_length(transcript)=686nt_BP=165nt
GCAAATGCGTGCTACGTCACTGTGCGATCGGGTTGTGCTTAGCTTGGGGTCTCCTGGCCCCTTGACGCGTCAGGTTGCTGTACCCCTGCA
TCGGATGCGCTGTACCCTGCGCTGGCTCCGTGAACCTTAGGGACAACACCGGGACACCCGCGAGGCCGGAAAATGGCGTTGGAGACCAGG
GCCAGCCCTGGCCACACCCCAGGCTGTGTCACCTTCGTCCTGAATGACCACAGCATGGCCTTCACTGGAGATGCCCTGTTGATCCGTGGG
TGTGGGCGGACAGACTTCCAGCAAGGCTGTGCCAAGACCTTGTACCACTCGGTCCATGAAAAGATCTTCACACTTCCAGGAGACTGTCTG
ATCTACCCTGCTCACGATTACCATGGGTTCACAGTGTCCACCGTGGAGGAGGAGAGGACTCTGAACCCTCGGCTCACCCTCAGCTGTGAG
GAGTTTGTCAAAATCATGGGCAACCTGAACTTGCCTAAACCTCAGCAGATAGACTTTGCTGTTCCAGCCAACATGCGCTGTGGGGTGCAG
ACACCCACTGCCTGATCTCACTTCTGTCAGATGCTCCCATCCACTATTAATGCACTAGGTGGGAGGAGAGGGCGGCAATGACACTGCACC

>In-frame_ENST00000343325_ENST00000292147_TCGA-24-1558-01A_ZNF791_chr19_12721896_+_ETHE1_chr19_44015718_length(amino acids)=130AA_start in transcript=162_stop in transcript=554
MALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPR

--------------------------------------------------------------
>In-frame_ENST00000343325_ENST00000600651_TCGA-24-1558-01A_ZNF791_chr19_12721896_+_ETHE1_chr19_44015718_length(transcript)=818nt_BP=165nt
GCAAATGCGTGCTACGTCACTGTGCGATCGGGTTGTGCTTAGCTTGGGGTCTCCTGGCCCCTTGACGCGTCAGGTTGCTGTACCCCTGCA
TCGGATGCGCTGTACCCTGCGCTGGCTCCGTGAACCTTAGGGACAACACCGGGACACCCGCGAGGCCGGAAAATGGCGTTGGAGACCAGG
GCCAGCCCTGGCCACACCCCAGGCTGTGTCACCTTCGTCCTGAATGACCACAGCATGGCCTTCACTGGAGATGCCCTGTTGATCCGTGGG
TGTGGGCGGACAGACTTCCAGCAAGGCTGTGCCAAGACCTTGTACCACTCGGTCCATGAAAAGATCTTCACACTTCCAGGAGACTGTCTG
ATCTACCCTGCTCACGATTACCATGGGTTCACAGTGTCCACCGTGGAGGAGGAGAGGACTCTGAACCCTCGGCTCACCCTCAGCTGTGAG
GAGTTTGTCAAAATCATGGGCAACCTGAACTTGCCTAAACCTCAGCAGATAGGTGAGCAGCTGGGGACCTGGACTTCTGGGTCTGAGAGA
GGAGGGGCTGGGGTCTTGGACTCCTGGGTCTGAGAGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCC
TGGACTCCTGGGTCTGAGGGAGGAGAGGCTGGGGGCCTGGACTCCTGGGTCTAAGGGAGGAGGGGCTGGGGGACTGGACTCCTGGGTCTG
AGGCAGTAGGGGCTGGGGGCCTGGACTCCTGGCTCTGAGGGAGTAGGGGCTGGGCTGGGGGCCTGGGCTCCTGAGTCTGAGGGAGGAGGG

>In-frame_ENST00000343325_ENST00000600651_TCGA-24-1558-01A_ZNF791_chr19_12721896_+_ETHE1_chr19_44015718_length(amino acids)=136AA_start in transcript=162_stop in transcript=572
MALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPR

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

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Fusion Gene PPI Analysis for ZNF791-ETHE1


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 ZNF791-ETHE1


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 ZNF791-ETHE1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneETHE1C0023264Leigh Disease10CLINGEN
TgeneETHE1C1838951LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY10CLINGEN
TgeneETHE1C1850597Leigh Syndrome Due To Mitochondrial Complex II Deficiency10CLINGEN
TgeneETHE1C1850598Leigh Syndrome due to Mitochondrial Complex III Deficiency10CLINGEN
TgeneETHE1C1850599Leigh Syndrome due to Mitochondrial Complex IV Deficiency10CLINGEN
TgeneETHE1C1850600Leigh Syndrome due to Mitochondrial Complex V Deficiency10CLINGEN
TgeneETHE1C2931891Necrotizing encephalopathy, infantile subacute, of Leigh10CLINGEN
TgeneETHE1C1865349Ethylmalonic encephalopathy4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT