PedAM

Pediatric Disease Annotations & Medicines


	leigh syndrome

Disease ID	23
Disease	leigh syndrome
Definition	A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
Synonym	disease leigh disease, leigh's diseases leighs enceph subacute necrotizing encephalomyelitides, subacute necrotizing encephalomyelitis, subacute necrotizing encephalomyelopathies, subacute necrotizing encephalomyelopathy, necrotizing, subacute encephalomyelopathy, subacute necrotizing encephalopathies, subacute necrotizing encephalopathy, subacute necrotizing leigh dis leigh disease leigh disease [disease/finding] leigh syndrome (256000) leigh's disease leigh's disease (disorder) leighs dis leighs disease leighs syndrome ls necrotizing encephalomyelitides, subacute necrotizing encephalomyelitis, subacute necrotizing encephalomyelopathies, subacute necrotizing encephalomyelopathy, subacute necrotizing encephalopathies, subacute necrotizing encephalopathy, subacute sne snem - subacute necrotising encephalomyelopathy snem - subacute necrotizing encephalomyelopathy subacute necrotising encephalomyelopathy subacute necrotising encephalopathy subacute necrotizing enceph subacute necrotizing encephalomyelitides subacute necrotizing encephalomyelitis subacute necrotizing encephalomyelopathies subacute necrotizing encephalomyelopathy subacute necrotizing encephalopathies subacute necrotizing encephalopathy
Orphanet	ORPHANET:506
OMIM	OMIM:256000
DOID	DOID:3652
ICD10	ICD10CM:G31.82
UMLS	C0023264
MeSH	D007888
SNOMED-CT	SNOMEDCT_US_2016_09_01:29570005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:15) C0014544 \| epilepsy \| 3 C0029124 \| optic atrophy \| 2 C0456909 \| blindness \| 1 C0751651 \| mitochondrial disorders \| 1 C0026850 \| muscular dystrophy \| 1 C0034063 \| pulmonary edema \| 1 C0029089 \| ophthalmoplegia \| 1 C0026654 \| moyamoya \| 1 C0751651 \| mitochondrial disorder \| 1 C1838979 \| mitochondrial complex i deficiency \| 1 C0004134 \| ataxia \| 1 C0410174 \| fukuyama congenital muscular dystrophy \| 1 C0028738 \| nystagmus \| 1 C0026654 \| moyamoya disease \| 1 C0699743 \| congenital muscular dystrophy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:41) SURF1 \| 6834 \| CLINVAR;GHR;ORPHANET;UniProtKB-KW;UNIPROT;CTD_human SDHA \| 6389 \| CTD_human;GHR;UniProtKB-KW;UNIPROT IARS2 \| 55699 \| CLINVAR MT-ATP6 \| 4508 \| UniProtKB-KW;GHR PDSS2 \| 57107 \| GHR POLG \| 5428 \| UniProtKB-KW;UNIPROT LRPPRC \| 10128 \| UniProtKB-KW;GHR MT-ND2 \| 4536 \| GHR MT-ND1 \| 4535 \| GHR NDUFV1 \| 4723 \| CTD_human;UNIPROT;GHR;UniProtKB-KW DLD \| 1738 \| CTD_human NDUFS1 \| 4719 \| GHR NDUFS2 \| 4720 \| ORPHANET;GHR NDUFS3 \| 4722 \| CTD_human;GHR NDUFS4 \| 4724 \| CTD_human;GHR NDUFS7 \| 374291 \| CTD_human;UniProtKB-KW;GHR NDUFS8 \| 4728 \| CLINVAR;CTD_human;UNIPROT;GHR;UniProtKB-KW NDUFAF6 \| 137682 \| CTD_human;GHR BCS1L \| 617 \| CTD_human COX15 \| 1355 \| CTD_human;UNIPROT;GHR;UniProtKB-KW COX10 \| 1352 \| UniProtKB-KW;GHR MT-ND6 \| 4541 \| GHR MT-ND5 \| 4540 \| UniProtKB-KW;GHR MT-ND4 \| 4538 \| GHR PDHB \| 5162 \| GHR TACO1 \| 51204 \| CTD_human;UniProtKB-KW;GHR NDUFA2 \| 4695 \| CTD_human;GHR PDHA1 \| 5160 \| UniProtKB-KW;GHR NDUFA1 \| 4694 \| GHR NDUFA4 \| 4697 \| UniProtKB-KW MTFMT \| 123263 \| CLINVAR;UniProtKB-KW NDUFAF5 \| 79133 \| UNIPROT;GHR;UniProtKB-KW NDUFAF2 \| 91942 \| CTD_human;GHR NDUFA12 \| 55967 \| UniProtKB-KW NDUFA10 \| 4705 \| GHR NDUFA11 \| 126328 \| GHR NARS2 \| 79731 \| UniProtKB-KW;UNIPROT FOXRED1 \| 55572 \| CTD_human;GHR ECHS1 \| 1892 \| CLINVAR SCO2 \| 9997 \| ORPHANET;UniProtKB-KW MT-ND3 \| 4537 \| UniProtKB-KW;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 4540 \| MT-ND5 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:187) 4706 \| NDUFAB1 \| DISEASES 1355 \| COX15 \| DISEASES 5009 \| OTC \| DISEASES 1738 \| DLD \| DISEASES 79152 \| FA2H \| DISEASES 123263 \| MTFMT \| DISEASES 54332 \| GDAP1 \| DISEASES 4967 \| OGDH \| DISEASES 8050 \| PDHX \| DISEASES 9896 \| FIG4 \| DISEASES 374291 \| NDUFS7 \| DISEASES 9167 \| COX7A2L \| DISEASES 9927 \| MFN2 \| DISEASES 4709 \| NDUFB3 \| DISEASES 35 \| ACADS \| DISEASES 514 \| ATP5E \| DISEASES 57505 \| AARS2 \| DISEASES 50484 \| RRM2B \| DISEASES 1890 \| TYMP \| DISEASES 4695 \| NDUFA2 \| DISEASES 376497 \| SLC27A1 \| DISEASES 4705 \| NDUFA10 \| DISEASES 9997 \| SCO2 \| DISEASES 91574 \| C12orf65 \| DISEASES 6341 \| SCO1 \| DISEASES 4608 \| MYBPH \| DISEASES 80704 \| SLC19A3 \| DISEASES 51204 \| TACO1 \| DISEASES 51103 \| NDUFAF1 \| DISEASES 10128 \| LRPPRC \| DISEASES 10063 \| COX17 \| DISEASES 11019 \| LIAS \| DISEASES 1352 \| COX10 \| DISEASES 54902 \| TTC19 \| DISEASES 55697 \| VAC14 \| DISEASES 80208 \| SPG11 \| DISEASES 9739 \| SETD1A \| DISEASES 27443 \| CECR2 \| DISEASES 8455 \| ATRN \| DISEASES 7350 \| UCP1 \| DISEASES 3977 \| LIFR \| DISEASES 55572 \| FOXRED1 \| DISEASES 4722 \| NDUFS3 \| DISEASES 55669 \| MFN1 \| DISEASES 200576 \| PIKFYVE \| DISEASES 3004 \| GZMM \| DISEASES 10891 \| PPARGC1A \| DISEASES 6389 \| SDHA \| DISEASES 4885 \| NPTX2 \| DISEASES 4704 \| NDUFA9 \| DISEASES 5428 \| POLG \| DISEASES 6687 \| SPG7 \| DISEASES 10939 \| AFG3L2 \| DISEASES 4726 \| NDUFS6 \| DISEASES 10667 \| FARS2 \| DISEASES 79731 \| NARS2 \| DISEASES 5860 \| QDPR \| DISEASES 291 \| SLC25A4 \| DISEASES 92935 \| MARS2 \| DISEASES 5903 \| RANBP2 \| DISEASES 23250 \| ATP11A \| DISEASES 5018 \| OXA1L \| DISEASES 79178 \| THTPA \| DISEASES 55687 \| TRMU \| DISEASES 80308 \| FLAD1 \| DISEASES 5130 \| PCYT1A \| DISEASES 1293 \| COL6A3 \| DISEASES 91942 \| NDUFAF2 \| DISEASES 4724 \| NDUFS4 \| DISEASES 84340 \| GFM2 \| DISEASES 1353 \| COX11 \| DISEASES 1292 \| COL6A2 \| DISEASES 54949 \| SDHAF2 \| DISEASES 3960 \| LGALS4 \| DISEASES 55699 \| IARS2 \| DISEASES 7386 \| UQCRFS1 \| DISEASES 686 \| BTD \| DISEASES 5162 \| PDHB \| DISEASES 23209 \| MLC1 \| DISEASES 27235 \| COQ2 \| DISEASES 54968 \| TMEM70 \| DISEASES 28976 \| ACAD9 \| DISEASES 10102 \| TSFM \| DISEASES 4728 \| NDUFS8 \| DISEASES 2653 \| GCSH \| DISEASES 80207 \| OPA3 \| DISEASES 10229 \| COQ7 \| DISEASES 4723 \| NDUFV1 \| DISEASES 25915 \| NDUFAF3 \| DISEASES 84987 \| COX14 \| DISEASES 4729 \| NDUFV2 \| DISEASES 51218 \| GLRX5 \| DISEASES 83733 \| SLC25A18 \| DISEASES 1915 \| EEF1A1 \| DISEASES 55967 \| NDUFA12 \| DISEASES 388962 \| BOLA3 \| DISEASES 55256 \| ADI1 \| DISEASES 3141 \| HLCS \| DISEASES 4697 \| NDUFA4 \| DISEASES 7818 \| DAP3 \| DISEASES 1431 \| CS \| DISEASES 51601 \| LIPT1 \| DISEASES 92399 \| MRRF \| DISEASES 56704 \| JPH1 \| DISEASES 51287 \| COA4 \| DISEASES 91137 \| SLC25A46 \| DISEASES 37 \| ACADVL \| DISEASES 1996 \| ELAVL4 \| DISEASES 84677 \| DSCR8 \| DISEASES 84705 \| GTPBP3 \| DISEASES 6832 \| SUPV3L1 \| DISEASES 26275 \| HIBCH \| DISEASES 27010 \| TPK1 \| DISEASES 4512 \| MT-CO1 \| DISEASES 4519 \| MT-CYB \| DISEASES 4508 \| MT-ATP6 \| DISEASES 4541 \| MT-ND6 \| DISEASES 4535 \| MT-ND1 \| DISEASES 4539 \| MT-ND4L \| DISEASES 25925 \| ZNF521 \| DISEASES 4540 \| MT-ND5 \| DISEASES 4513 \| MT-CO2 \| DISEASES 4538 \| MT-ND4 \| DISEASES 4514 \| MT-CO3 \| DISEASES 4536 \| MT-ND2 \| DISEASES 55157 \| DARS2 \| DISEASES 1291 \| COL6A1 \| DISEASES 4537 \| MT-ND3 \| DISEASES 4509 \| MT-ATP8 \| DISEASES 2271 \| FH \| DISEASES 200205 \| IBA57 \| DISEASES 84947 \| SERAC1 \| DISEASES 54516 \| MTRF1L \| DISEASES 55005 \| RMND1 \| DISEASES 6391 \| SDHC \| DISEASES 4720 \| NDUFS2 \| DISEASES 1892 \| ECHS1 \| DISEASES 57107 \| PDSS2 \| DISEASES 29944 \| PNMA3 \| DISEASES 25973 \| PARS2 \| DISEASES 4694 \| NDUFA1 \| DISEASES 6834 \| SURF1 \| DISEASES 6130 \| RPL7A \| DISEASES 1678 \| TIMM8A \| DISEASES 4702 \| NDUFA8 \| DISEASES 6390 \| SDHB \| DISEASES 6392 \| SDHD \| DISEASES 7407 \| VARS \| DISEASES 2395 \| FXN \| DISEASES 79133 \| NDUFAF5 \| DISEASES 8803 \| SUCLA2 \| DISEASES 54675 \| CRLS1 \| DISEASES 644096 \| SDHAF1 \| DISEASES 9617 \| MTRF1 \| DISEASES 5160 \| PDHA1 \| DISEASES 4712 \| NDUFB6 \| DISEASES 1993 \| ELAVL2 \| DISEASES 8908 \| GYG2 \| DISEASES 2731 \| GLDC \| DISEASES 26278 \| SACS \| DISEASES 131118 \| DNAJC19 \| DISEASES 1130 \| LYST \| DISEASES 8802 \| SUCLG1 \| DISEASES 5091 \| PC \| DISEASES 137682 \| NDUFAF6 \| DISEASES 54704 \| PDP1 \| DISEASES 27247 \| NFU1 \| DISEASES 5165 \| PDK3 \| DISEASES 85300 \| ATCAY \| DISEASES 4719 \| NDUFS1 \| DISEASES 197 \| AHSG \| DISEASES 87178 \| PNPT1 \| DISEASES 25821 \| MTO1 \| DISEASES 91647 \| ATPAF2 \| DISEASES 85476 \| GFM1 \| DISEASES 51079 \| NDUFA13 \| DISEASES 57176 \| VARS2 \| DISEASES 81892 \| SLIRP \| DISEASES 26024 \| PTCD1 \| DISEASES 4782 \| NFIC \| DISEASES 100131801 \| PET100 \| DISEASES 4556 \| MT-TE \| DISEASES 4565 \| MT-TI \| DISEASES 4566 \| MT-TK \| DISEASES 4567 \| MT-TL1 \| DISEASES 4568 \| MT-TL2 \| DISEASES 4578 \| MT-TW \| DISEASES
Locus	(Waiting for update.)

Disease ID	23
Disease	leigh syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:13) HP:0004374 \| Hemiplegia/hemiparesis HP:0000639 \| Nystagmus HP:0008972 \| Decreased activity of mitochondrial respiratory chain HP:0001251 \| Ataxia HP:0007020 \| Progressive spastic paraplegia HP:0100022 \| Abnormality of movement HP:0000648 \| Optic atrophy HP:0001250 \| Seizures HP:0000486 \| Strabismus HP:0100543 \| Cognitive impairment HP:0002093 \| Respiratory insufficiency HP:0001252 \| Muscular hypotonia HP:0007650 \| Progressive ophthalmoplegia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:13) HP:0000648 \| Optic-nerve degeneration \| 2 HP:0003560 \| Muscular dystrophy \| 1 HP:0000639 \| Nystagmus \| 1 HP:0000618 \| Blindness \| 1 HP:0000602 \| Ophthalmoplegia \| 1 HP:0001270 \| Motor retardation \| 1 HP:0001941 \| acidemia \| 1 HP:0100598 \| Pulmonary oedema \| 1 HP:0002804 \| Arthrogryposis multiplex congenita \| 1 HP:0003741 \| Muscular dystrophy, congenital \| 1 HP:0001336 \| Myoclonic jerks \| 1 HP:0001263 \| Developmental retardation \| 1 HP:0001251 \| Ataxia \| 1

Disease ID	23
Disease	leigh syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:7) C2700533 \| cytochrome c oxidase deficiency C1963138 \| hypertension C1145670 \| respiratory failure C0342782 \| mitochondrial dna depletion C0037090 \| respiratory symptoms C0023520 \| leukodystrophy C0001125 \| lactic acidosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0268237 \| cytochrome c oxidase deficiency \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:49)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs118192098	NA	4566	TRNK	umls:C0023264	CLINVAR	NA	0.120542884	NA	NA	MT	8344	A	G
rs118192100	NA	4566	TRNK	umls:C0023264	CLINVAR	NA	0.120542884	NA	NA	MT	8363	G	A
rs143722284	NA	55699	IARS2	umls:C0023264	CLINVAR	NA	0.120271442	NA	IARS2	1	220137990	G	A
rs150667550	20819849	4720	NDUFS2	umls:C0023264	BeFree	The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.	0.121085767	2010	NDUFS2	1	161210599	T	C
rs199474657	NA	4567	TRNL1	umls:C0023264	CLINVAR	NA	0.12	NA	NA	MT	3243	A	G
rs199474672	NA	4578	TRNW	umls:C0023264	CLINVAR	NA	0.120271442	NA	NA	MT	5537	-	T
rs199476104	NA	4541	ND6	umls:C0023264	CLINVAR	NA	0.121085767	NA	ND6	MT	14484	T	C
rs199476105	NA	4541	ND6	umls:C0023264	CLINVAR	NA	0.121085767	NA	ND6	MT	14459	G	A
rs199476109	NA	4541	ND6	umls:C0023264	CLINVAR	NA	0.121085767	NA	ND6	MT	14487	T	C
rs199476112	21414825	4538	ND4	umls:C0023264	BeFree	Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R340H) in the MTND4 gene usually observed in patients with LHON.	0.121357209	2011	ND4	MT	11778	G	A
rs199476117	NA	4537	ND3	umls:C0023264	CLINVAR	NA	0.24953026	NA	ND3	MT	10158	T	C
rs199476118	NA	4535	ND1	umls:C0023264	CLINVAR	NA	0.120814326	NA	ND1	MT	3460	G	A
rs199476122	24830958	4535	ND1	umls:C0023264	BeFree	Herein we report on three siblings with Leigh syndrome (LS) harboring a homoplasmic m.3697G>A mutation (G131S) in the MT-ND1 gene.	0.120814326	2014	ND1	MT	3697	G	A
rs199476133	NA	4508	ATP6	umls:C0023264	CLINVAR	NA	0.251691864	NA	ATP6	MT	8993	T	C,G
rs199476135	NA	4508	ATP6	umls:C0023264	CLINVAR	NA	0.251691864	NA	ATP6	MT	9176	T	C,G
rs199476136	NA	4508	ATP6	umls:C0023264	CLINVAR	NA	0.251691864	NA	ATP6	MT	8851	T	C
rs199476138	NA	4508	ATP6	umls:C0023264	CLINVAR	NA	0.251691864	NA	ATP6	MT	9185	T	C
rs199476138	24153443	4508	ATP6	umls:C0023264	BeFree	The MT-ATP6 m.9185T>C p.Leu220Pro mutation, previously associated with Leigh syndrome, was present in all family members, while the MT-TL1 m.3271T>C mutation, a known cause of MELAS syndrome, was observed in the sole patient with MELAS presentation.	0.251691864	2014	ATP6	MT	9185	T	C
rs199476144	NA	4577	TRNV	umls:C0023264	CLINVAR	NA	0.12	NA	NA	MT	1624	C	T
rs200911567	NA	4538	ND4	umls:C0023264	CLINVAR	NA	0.121357209	NA	ND4	MT	11984	T	C
rs201431517	NA	123263	MTFMT	umls:C0023264	CLINVAR	NA	0.120271442	NA	MTFMT	15	65021533	G	A
rs267606614	NA	4514	COX3	umls:C0023264	CLINVAR	NA	0.120542884	NA	COX3	MT	9537	-	C
rs267606889	NA	4536	ND2	umls:C0023264	CLINVAR	NA	0.12272435	NA	ND2	MT	4681	T	C
rs267606890	NA	4537	ND3	umls:C0023264	CLINVAR	NA	0.24953026	NA	ND3	MT	10191	T	C
rs267606891	NA	4537	ND3	umls:C0023264	CLINVAR	NA	0.24953026	NA	ND3	MT	10197	G	A
rs267606893	NA	4540	ND5	umls:C0023264	CLINVAR	NA	0.2489015	NA	ND5	MT	12706	T	C
rs267606897	NA	4540	ND5	umls:C0023264	CLINVAR	NA	0.2489015	NA	ND5	MT	13513	G	A
rs28384199	NA	4538	ND4	umls:C0023264	CLINVAR	NA	0.121357209	NA	ND4	MT	11777	C	A,G
rs28933402	10746561	6834	SURF1	umls:C0023264	UNIPROT	Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.	0.585469386	2000	SURF1	9	133353893	C	T
rs28939679	9837812	4728	NDUFS8	umls:C0023264	UNIPROT	Cycle sequencing of amplified NDUFS8 cDNA of 20 patients with isolated enzymatic complex I deficiency revealed two compound heterozygous transitions in a patient with neuropathologically proven Leigh syndrome.	0.360814326	1998	NDUFS8;MIR4691;MIR7113	11	68033147	C	T
rs28939679	20819849	4719	NDUFS1	umls:C0023264	BeFree	These included a novel homozygous NDUFS1 mutation in an Asian child with Leigh syndrome, a previously identified NDUFS8 mutation (c.236C>T, p.P79L) in a second Asian child with Leigh-like syndrome and six novel, compound heterozygous NDUFS2 mutations in four white Caucasian patients with Leigh or Leigh-like syndrome.	0.003267234	2010	NDUFS8;MIR4691;MIR7113	11	68033147	C	T
rs28939711	12474143	1355	COX15	umls:C0023264	UNIPROT	Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.	0.242995792	2003	COX15	10	99724057	G	A
rs369202065	NA	4508	ATP6	umls:C0023264	CLINVAR	NA	0.251691864	NA	ATP6	MT	8839	G	A,C
rs370471013	NA	4578	TRNW	umls:C0023264	CLINVAR	NA	0.120271442	NA	NA	MT	5559	A	G
rs373436822	NA	55699	IARS2	umls:C0023264	CLINVAR	NA	0.120271442	NA	IARS2	1	220126827	G	A
rs386829069	NA	4508	ATP6	umls:C0023264	CLINVAR	NA	0.251691864	NA	ATP6	MT	9191	T	C
rs587776433	NA	4535	ND1	umls:C0023264	CLINVAR	NA	0.120814326	NA	ND1	MT	3481	G	A
rs587776434	NA	4535	ND1	umls:C0023264	CLINVAR	NA	0.120814326	NA	ND1	MT	3890	G	A
rs587776435	NA	4578	TRNW	umls:C0023264	CLINVAR	NA	0.120271442	NA	NA	MT	5523	T	G
rs587776437	NA	4514	COX3	umls:C0023264	CLINVAR	NA	0.120542884	NA	COX3	MT	9478	T	C
rs587776438	NA	4537	ND3	umls:C0023264	CLINVAR	NA	0.24953026	NA	ND3	MT	10254	G	A
rs587776440	NA	4540	ND5	umls:C0023264	CLINVAR	NA	0.2489015	NA	ND5	MT	13514	A	G
rs587776441	NA	4577	TRNV	umls:C0023264	CLINVAR	NA	0.12	NA	NA	MT	1644	G	T
rs587776442	NA	4535	ND1	umls:C0023264	CLINVAR	NA	0.120814326	NA	ND1	MT	3928	G	C
rs587776444	NA	4508	ATP6	umls:C0023264	CLINVAR	NA	0.251691864	NA	ATP6	MT	8989	G	C
rs587776497	NA	1892	ECHS1	umls:C0023264	CLINVAR	NA	0.120814326	NA	ECHS1;MIR3944	10	133373332	A	C
rs587776498	NA	1892	ECHS1	umls:C0023264	CLINVAR	NA	0.120814326	NA	ECHS1;MIR3944	10	133373329	G	A
rs587780529	NA	4537	ND3	umls:C0023264	CLINVAR	NA	0.24953026	NA	ND3	MT	10134	C	A
rs764276946	NA	4728	NDUFS8	umls:C0023264	CLINVAR	NA	0.360814326	NA	NDUFS8;MIR4691;MIR7113	11	68033254	A	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0003128	Lactic acidosis	MP:0003031	acidosis;HP:0002878	Respiratory failure

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000822	Hypertension	MP:0011250	abdominal situs ambiguus;HP:0002415	Leukodystrophy

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)