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.
Description
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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.
metasource: bio.toolsversion: extracted_at: 2021-11-02T21:00:48.565297
Webpage:
https://www.centogene.com/mutation-database-centomd.htmlWebpage
More detailed information about this field from each metasource.
https://www.centogene.com/mutation-database-centomd.html
metasource: bio.toolsversion: extracted_at: 2021-11-02T21:00:48.565297
Licence:
Name: ProprietaryLicence name
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Publications:
Publications
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A comprehensive global genotype-phenotype database for rare diseases
PMID: 28116331
metasource: bio.tools
version: extracted_at: 2021-11-02T21:00:48.565297
Publications
More detailed information about this field from each metasource.
A comprehensive global genotype-phenotype database for rare diseases
PMID: 28116331
metasource: bio.tools
version: extracted_at: 2021-11-02T21:00:48.565297
-
A comprehensive global genotype-phenotype database for rare diseases
PubMed citations: 23.
23 articles citing: A comprehensive global genotype-phenotype database for rare diseases
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders. PMID:33875846
GPCards: An integrated database of genotype-phenotype correlations in human genetic diseases. PMID:33868597
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. PMID:33559681
Using Bibliometric Analysis and Machine Learning to Identify Compounds Binding to Sialidase-1. PMID:33553934
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. PMID:33531666
LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact. PMID:33433017
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility. PMID:33083013
Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis. PMID:33020172
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. PMID:32979048
Workflow for the Implementation of Precision Genomics in Healthcare. PMID:32695137
How will next generation sequencing (NGS) improve the diagnosis of congenital hemolytic anemia? PMID:32355712
Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome. PMID:32256298
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease. PMID:32023956
The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci. PMID:31920912
Novel clinical and genetic insight into CXorf56-associated intellectual disability. PMID:31822863
Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test. PMID:31635081
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice. PMID:31363758
Clinical research challenges in rare genetic diseases in Brazil. PMID:31170279
Exploiting machine learning for end-to-end drug discovery and development. PMID:31000803
A Novel De Novo Frameshift Mutation in KAT6A Identified by Whole Exome Sequencing. PMID:30775047
Patient reported outcome measures in rare diseases: a narrative review. PMID:29688860
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability. PMID:29449720
Applying Precision Public Health to Prevent Preterm Birth. PMID:28421178
Tags:
Tags
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rare diseases
metasource: bio.tools
version: extracted_at: 2021-11-02T21:00:48.565297
genetic variation
metasource: bio.tools
version: extracted_at: 2021-11-02T21:00:48.565297
genotype and phenotype
metasource: bio.tools
version: extracted_at: 2021-11-02T21:00:48.565297
pathology
metasource: bio.tools
version: extracted_at: 2021-11-02T21:00:48.565297
Tags
More detailed information about this field from each metasource.
rare diseases
metasource: bio.toolsversion: extracted_at: 2021-11-02T21:00:48.565297
genetic variation
metasource: bio.toolsversion: extracted_at: 2021-11-02T21:00:48.565297
genotype and phenotype
metasource: bio.toolsversion: extracted_at: 2021-11-02T21:00:48.565297
pathology
metasource: bio.toolsversion: extracted_at: 2021-11-02T21:00:48.565297
rare diseases genetic variation genotype and phenotype pathology