CentoMD

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CentoMD

metasource: bio.tools
version: extracted_at: 2022-11-04T11:31:17.040189

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centomd

metasource: bio.tools
version: extracted_at: 2022-11-04T11:31:17.040189

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Other names: centomd

Genetic mutation database for rare diseases that enables to search, sort and filter genetic variants from clinically diagnosed individuals worldwide and make symptoms-based queries.

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Publications

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A comprehensive global genotype-phenotype database for rare diseases
PMID: 28116331

metasource: bio.tools
version: extracted_at: 2022-11-04T11:31:17.040189

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• A comprehensive global genotype-phenotype database for rare diseases PubMed citations: 24.

  24 articles citing: A comprehensive global genotype-phenotype database for rare diseases

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  Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology. PMID:34658264

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  Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders. PMID:33875846

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  GPCards: An integrated database of genotype-phenotype correlations in human genetic diseases. PMID:33868597

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  An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. PMID:33559681

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  Using Bibliometric Analysis and Machine Learning to Identify Compounds Binding to Sialidase-1. PMID:33553934

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  A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. PMID:33531666

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  LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact. PMID:33433017

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  Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility. PMID:33083013

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  Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis. PMID:33020172

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  Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. PMID:32979048

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  Workflow for the Implementation of Precision Genomics in Healthcare. PMID:32695137

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  How will next generation sequencing (NGS) improve the diagnosis of congenital hemolytic anemia? PMID:32355712

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  Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome. PMID:32256298

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  Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease. PMID:32023956

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  The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci. PMID:31920912

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  Novel clinical and genetic insight into CXorf56-associated intellectual disability. PMID:31822863

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  Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test. PMID:31635081

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  Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice. PMID:31363758

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  Clinical research challenges in rare genetic diseases in Brazil. PMID:31170279

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  Exploiting machine learning for end-to-end drug discovery and development. PMID:31000803

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  A Novel De Novo Frameshift Mutation in KAT6A Identified by Whole Exome Sequencing. PMID:30775047

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  Patient reported outcome measures in rare diseases: a narrative review. PMID:29688860

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  Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability. PMID:29449720

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  Applying Precision Public Health to Prevent Preterm Birth. PMID:28421178

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rare diseases

metasource: bio.tools
version: extracted_at: 2022-11-04T11:31:17.040189

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genetic variation

metasource: bio.tools
version: extracted_at: 2022-11-04T11:31:17.040189

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genotype and phenotype

metasource: bio.tools
version: extracted_at: 2022-11-04T11:31:17.040189

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pathology

metasource: bio.tools
version: extracted_at: 2022-11-04T11:31:17.040189

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rare diseases genetic variation genotype and phenotype pathology