Disease browser and phenotype 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

Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Epilepsy (D004827)
Parent Node: Mitochondrial Diseases (D028361)
Parent Node: Spinocerebellar Ataxias (D020754)
..Starting node ..Spinocerebellar Ataxia with Epilepsy (C564395)
Child Nodes:
Sister Nodes:
..Anemia, sideroblastic spinocerebellar ataxia (C536358)
..Ataxia Telangiectasia (D001260) 6
..Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..Gemignani syndrome (C537678)
..Machado-Joseph Disease (D017827) 1
..MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
..Spastic Ataxia (C564815)
..Spastic ataxia Charlevoix-Saguenay type (C536787)
..Spinocerebellar Ataxia 10 (C566874)
..Spinocerebellar Ataxia 11 (C565772)
..Spinocerebellar Ataxia 12 (C565790)
..Spinocerebellar Ataxia 15 (C564685)
..Spinocerebellar Ataxia 17 (C564616)
..Spinocerebellar ataxia 20 (C537199)
..Spinocerebellar ataxia 25 (C537202)
..Spinocerebellar ataxia 26 (C537203)
..Spinocerebellar ataxia 30 (C575214)
..Spinocerebellar Ataxia 31 (C566146)
..Spinocerebellar Ataxia And Plaque-Like Deposits (C566671)
..Spinocerebellar Ataxia with Dysmorphism (C564802)
..Spinocerebellar Ataxia with Epilepsy (C564395)
..Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..Spinocerebellar Ataxia, Autosomal Recessive 7 (C563753)
..Spinocerebellar Ataxia, Autosomal Recessive 8 (C565188)
..Spinocerebellar Ataxia, Autosomal Recessive 9 (C567436)
..Spinocerebellar Ataxia, X-Linked 1 (C563134)
..Spinocerebellar Ataxia, X-Linked 5 (C567478)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10525
Name:	Spinocerebellar Ataxia with Epilepsy
Definition:
Alternative IDs:
ParentIDs:	MESH:D004827\|MESH:D020754\|MESH:D028361
TreeNumbers:	C10.228.140.252.190.530/C564395 \|C10.228.140.252.700.700/C564395 \|C10.228.140.490/C564395 \|C10.228.854.787.875/C564395 \|C10.574.500.825.700/C564395 \|C10.597.350.090.500.530/C564395 \|C16.320.400.780.875/C564395 \|C18.452.660/C564395
Synonyms:	Myoclonic Epilepsy Myopathy Sensory Ataxia
Slim Mappings:	Genetic disease (inborn)\|Metabolic disease\|Nervous system disease
Reference:	MedGen: C564395 MeSH: C564395 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants