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

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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Pathologic Processes (D010335)
..Starting node ..Genomic Instability (D042822)
Child Nodes:
........Chromosomal Instability (D043171) 3
........Microsatellite Instability (D053842)
Sister Nodes:
..Acantholysis (D000051) 1
..Arrhythmias, Cardiac (D001145) 112
..Ascites (D001201)
..Atrial Remodeling (D064752)
..Azotemia (D053099)
..Cardiotoxicity (D066126)
..Channelopathies (D053447) 1
..Chromosome Aberrations (D002869) 271
..Death (D003643) 27
..Dehydration (D003681)
..Delayed Graft Function (D051799)
..Disease (D004194) 1
..Disease Attributes (D020969) 171
..Dysbiosis (D064806)
..Emphysema (D004646) 6
..Extravasation of Diagnostic and Therapeutic Materials (D005119)
..Femoracetabular Impingement (D057925)
..Fibrosis (D005355) 16
..Genomic Instability (D042822) 5
..Gliosis (D005911) 1
..Granuloma (D006099) 17
..Granulomatosis, Orofacial (D051261)
..Growth Disorders (D006130) 191
..Hemolysis (D006461) 2
..Hemorrhage (D006470) 84
..Hyperammonemia (D022124) 3
..Hyperamylasemia (D034321)
..Hyperbilirubinemia (D006932) 13
..Hyperplasia (D006965) 4
..Hyperuricemia (D033461) 8
..Hypovolemia (D020896)
..Inflammation (D007249) 52
..Intraoperative Complications (D007431) 15
..Ischemia (D007511) 3
..Leukoaraiosis (D049292)
..Leukocytosis (D007964) 6
..Lithiasis (D020347)
..Malacoplakia (D008287) 1
..Menstruation Disturbances (D008599) 10
..Metaplasia (D008679) 4
..Muscle Weakness (D018908) 5
..Necrosis (D009336) 12
..Neointima (D058426)
..Neoplastic Processes (D009385) 18
..Nerve Degeneration (D009410) 7
..Ochronosis (D009794) 2
..Ossification, Heterotopic (D009999) 7
..Polydipsia (D059606) 1
..Postoperative Complications (D011183) 42
..Protein Aggregation, Pathological (D066263)
..Respiratory Aspiration (D053120) 1
..Retropneumoperitoneum (D012188)
..Sclerosis (D012598) 8
..Shock (D012769) 18
..Teratogenesis (D064793)
..Ulcer (D014456) 1
..Vascular Remodeling (D066253)
..Yang Deficiency (D016711)
..Yin Deficiency (D016710)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4571
Name:	Genomic Instability
Definition:	An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.
Alternative IDs:
ParentIDs:	MESH:D010335
TreeNumbers:	C23.550.362
Synonyms:	Genome Instabilities \|Genome Instability \|Genome Stabilities \|Genome Stability \|Genomic Instabilities \|Genomic Stabilities \|Genomic Stability \|Instabilities, Genome \|Instabilities, Genomic \|Instability, Genome \|Instability, Genomic \|Stabilities, Genome \|Stabilities,
Slim Mappings:	Pathology (process)
Reference:	MedGen: D042822 MeSH: D042822 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants