ArticleMolecular genetics & genomic medicine2017
A comprehensive global genotype-phenotype database for rare diseases.
Article in Molecular genetics & genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed.
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- A genomic data archive from the Network for Pancreatic Organ donors with Diabetes.Scientific data · 2023Article
- Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing.Genetics in medicine open · 2023Article
- A disorder clinically resembling cystic fibrosis caused by biallelic variants in theJournal of medical genetics · 2022Article
- An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.European journal of human genetics : EJHG · 2022Article
- Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology.Annals of medicine · 2021Observational
- Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact.Movement disorders : official journal of the Movement Disorder Society · 2021Article
- An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.Brain : a journal of neurology · 2021Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe ability to discover genetic variants in a patient runs far ahead of the ability to interpret them. Databases with accurate descriptions of the causal relationship between the variants and the phenotype are valuable since these are critical tools in clinical genetic diagnostics. Here, we introduce a comprehensive and global genotype-phenotype database focusing on rare diseases.
methodsThis database (CentoMD
resultsMore than 100,000 genetically screened individuals are documented in the database, resulting in more than 470 million variant detections. Approximately, 57% of the clinically relevant and uncertain variants in the database are novel. Notably, 3% of the genetic variants identified and previously reported in the literature as being associated with a particular rare disease were reclassified, based on internal evidence, as clinically irrelevant.
conclusionsThe database offers a comprehensive summary of the clinical validity and causality of detected gene variants with their associated phenotypes, and is a valuable tool for identifying new disease genes through the correlation of novel genetic variants with specific, well-defined phenotypes.
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