MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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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, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Mitochondrial Myopathies (D017240)
..Starting node ..Myopathy, Mitochondrial, Lethal Infantile (C564017)
Child Nodes:
Sister Nodes:
..Combined Oxidative Phosphorylation Deficiency 3 (C566467) L: 00097;
..Mitochondrial cytopathy (C540770)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 11 (OMIM:615084) L: 00027;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT (OMIM:617184) L: 00527;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE (OMIM:615418) L: 00028;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) (OMIM:615471) L: 00029;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896) L: 00505;
..MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156) L: 00506;
..Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
..Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive (C567608)
..Mitochondrial Encephalomyopathies (D017237) 13 C:10
..Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport (C565376)
..Mitochondrial Myopathy with Diabetes (C564026)
..Mitochondrial myopathy with lactic acidosis (C537476) L: 00408;
..MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209) L: 00509;
..Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769) L: 00045;
..Myopathy, Mitochondrial, Lethal Infantile (C564017) L: 00172;
..Neuropathy ataxia and retinitis pigmentosa (C537396) L: 00168;
..Ophthalmoplegia, Chronic Progressive External (D017246) 7 C:5
..Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945) L: 00417;
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD