MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: amyotrophic lateral sclerosis (MONDO:0004976)
..Starting node ..amyotrophic lateral sclerosis type 23 ()
Child Nodes:
Sister Nodes:
..amyotrohpic lateral sclerosis type 22 ()
..amyotrophic lateral sclerosis type 21 ()
..amyotrophic lateral sclerosis type 23 ()
..amyotrophic lateral sclerosis type 3 ()
..amyotrophic lateral sclerosis type 7 ()
..amyotrophic lateral sclerosis type 8 ()
..amyotrophic lateral sclerosis type 9 ()
..amyotrophic lateral sclerosis with polyglucosan bodies ()
..amyotrophic lateral sclerosis, susceptibility to, 24 ()
..familial amyotrophic lateral sclerosis ()
..progressive muscular atrophy ()
..sporadic amyotrophic lateral sclerosis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

27694

Name:

amyotrophic lateral sclerosis type 23

Definition:

Alternative IDs:

617839

ParentIDs:

TreeNumbers:

Synonyms:

ALS23; amyotrophic lateral sclerosis 23; amyotrophic lateral sclerosis 23; ALS23

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 617839;
MSeqDR :
Genes:

Phenotypes

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr)	311	ANXA11	Pathogenic/Likely pathogenic	368751524	RCV000988396\|RCV001836926\|RCV002549708;	N	MONDO:MONDO:0027694,MedGen:C4693381,OMIM:617839\|MONDO:MONDO:0850514,MedGen:C5676909,OMIM:619733\|MedGen:CN517202	10	81930609	81930609	10:g.81930609C>A	OMIM:602572.0004
NM_145868.2(ANXA11):c.119A>G (p.Asp40Gly)	311	ANXA11	Pathogenic	1247392012	RCV000578138\|RCV001853834\|RCV003403366;	N	MONDO:MONDO:0027694,MedGen:C4693381,OMIM:617839\|MedGen:C3661900\|	10	81930608	81930608	NC_000010.10:g.81930608T>C	ClinGen:CA377368826,OMIM:602572.0001	CN778765 617839 AMYOTROPHIC LATERAL SCLEROSIS 23;
NM_145868.2(ANXA11):c.112G>A (p.Gly38Arg)	311	ANXA11	Likely pathogenic	142083484	RCV000578149\|RCV001860003\|RCV003105971;	N	MONDO:MONDO:0027694,MedGen:C4693381,OMIM:617839\|MedGen:C3661900\|Human Phenotype Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736, Orphanet:803	10	81930615	81930615	NC_000010.10:g.81930615C>T	ClinGen:CA5576379,OMIM:602572.0002	CN778765 617839 AMYOTROPHIC LATERAL SCLEROSIS 23;
NM_145868.2(ANXA11):c.1424G>A (p.Arg475Gln)	311	ANXA11	Uncertain significance	146644733	RCV001915034\|RCV003389074;	N	MedGen:C3661900\|MONDO:MONDO:0027694,MedGen:C4693381,OMIM:617839	10	81917431	81917431	81917431	-
NM_145868.2(ANXA11):c.904C>T (p.Arg302Cys)	311	ANXA11	Uncertain significance	142183550	RCV002293392\|RCV003395448;	N	MONDO:MONDO:0027694,MedGen:C4693381,OMIM:617839\|	10	81923854	81923854	81923854	-
NM_145868.2(ANXA11):c.607del (p.Leu203fs)	311	ANXA11	Uncertain significance	-1	RCV002285120;	N	MONDO:MONDO:0027694,MedGen:C4693381,OMIM:617839	10	81927024	81927024	81927023	-
NM_145868.2(ANXA11):c.523G>A (p.Gly175Arg)	311	ANXA11	Uncertain significance	754594235	RCV000578135\|RCV002526932;	N	MONDO:MONDO:0027694,MedGen:C4693381,OMIM:617839\|MedGen:CN517202	10	81928763	81928763	NC_000010.10:g.81928763C>T	ClinGen:CA210332498,OMIM:602572.0003	CN778765 617839 AMYOTROPHIC LATERAL SCLEROSIS 23;

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