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Collagen Mutation Database (CMD)

Names
More detailed information about this field from each metasource.

Collagen Mutation Database (CMD)
metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:49.428764

cmd
metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:49.428764

Other names: cmd

Names

More detailed information about this field from each metasource.

Collagen Mutation Database (CMD)

metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:49.428764

cmd

metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:49.428764

Database of osteogenesis imperfecta and type III collagen variants.

Description

More detailed information about this field from each metasource.

Database of osteogenesis imperfecta and type III collagen variants.

metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:49.428764

Webpage:

https://eds.gene.le.ac.uk

Webpage

More detailed information about this field from each metasource.

https://eds.gene.le.ac.uk

metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:49.428764

Publications:

Publications
More detailed information about this field from each metasource.

http://dx.doi.org/10.1002/humu.21438
metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:49.428764

http://dx.doi.org/10.1002/humu.21438

Tags:

Tags
More detailed information about this field from each metasource.

pathology
metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:49.428764

pathology

More to explore:

1/20

Osteogenesis imperfecta collagen mutation

All published accounts of variants resulting in osteogenesis imperfecta. Such variants occur in the COL1A1, COL1A2, CRTAP and LEPRE1 genes.

BGMUT

Blood Group Antigen Gene Mutation Database

Blackfan Anemia mutation database

Blackfan Anemia mutation database.

Alzheimer Disease & Frontotemporal Dementia Mutation Database

The Alzheimer Disease & Frontotemporal Dementia Mutation Database (AD&FTDMDB) aims at collecting all known mutations in the genes related to Alzheimer disease (AD) and fromtotemporal dementias (FTD). ...

AIP Mutation Database

The AIP Mutation Database collects variants (both pathogenic, non-pathogenic and with unknown significance) related to pituitary adenoma predisposition (PAP) and to familial isolated pituitary adenoma ...

Cypriot national mutation database

Disease mutations in the Cypriot population

Parkinson Disease Mutation Database

The Parkinson disease Mutation Database (PDmutDB) aims at collecting all known mutations in the genes related to Parkinson disease (PD). Mutations are collected from the literature and from presentati ...

Lowe Syndrome Mutation Database

Mutations in the OCRL1 gene encoding phosphatidylinositol-4,5-bisphosphate 5-phosphatase

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.

Cystic Fibrosis Mutation Database

The Cystic Fibrosis Mutation Database (CFTR1) was initiated by the Cystic Fibrosis Genetic Analysis Consortium in 1989 to increase and facilitate communications among CF researchers, and is maintained ...

Mediterranean Founder Mutation Database

A comprehensive database established to offer a web-based access to founder mutation data in Mediterranean population. The database provides an overview about the spectrum of founder mutations found i ...

MDPD

Mutation Database for Parkinson's Disease

EffectiveDB

The Effective database contains pre-calculated predictions of bacterial secreted proteins and of functional secretion systems. Effective bundles various tools to recognize Type III secretion signals, ...

Orthodisease

A database of disease gene orthologs.

MTCards

A database of mitochondrial genome variants in chinese population

BRISSKit

Biomedical Research Software as a Service that enables biomedical & translational researchers to securely manage and combine datasets, typically for patient cohorts. A suite of cloud enabled & integra ...

HGMD

The Human Gene Mutation Database (HGMD) - comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. It is a flexible resource that ...

16S and 23S Ribosomal RNA Mutation Database

Access to the expanded versions of the 16S and 23S Ribosomal RNA Mutation Databases has been improved to permit searches of the lists of alterations for all the data from (1) one specific organism, (2 ...

The Centre for Applied Genomics Databases

The Centre for Applied Genomics hosts a variety of databases related to ongoing supported projects. Curation of these databases is performed in-house by TCAG Bioinformatics staff. The Autism Chromosom ...

Electron density server at Uppsala university

A service for evaluating the electron density (and, indirectly, some aspects of the model quality) of crystal structures deposited in the Protein Data Bank. In addition to electron density maps and to ...

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[email protected]

Data is amalgamated and only retrieved periodically.
Some of the resources used by the system:

® FAIRsharing.org
® Bioontology/Bioportal Terms
® Nucleic Acid Research - Database
® re3data.org
® bio.tools
® PubMed - Courtesy of the U.S. National Library of Medicine

Collagen Mutation Database (CMD) Names More detailed information about this field from each metasource. × Collagen Mutation Database (CMD) metasource: bio.tools version: extracted_at: 2022-11-04T11:36:49.428764 cmd metasource: bio.tools version: extracted_at: 2022-11-04T11:36:49.428764 Close

Webpage:

Publications: Publications More detailed information about this field from each metasource. × http://dx.doi.org/10.1002/humu.21438 metasource: bio.tools version: extracted_at: 2022-11-04T11:36:49.428764 Close

Tags: Tags More detailed information about this field from each metasource. × pathology metasource: bio.tools version: extracted_at: 2022-11-04T11:36:49.428764 Close

More to explore:

1/20

Osteogenesis imperfecta collagen mutation

BGMUT

Blackfan Anemia mutation database

Alzheimer Disease & Frontotemporal Dementia Mutation Database

AIP Mutation Database

Cypriot national mutation database

Parkinson Disease Mutation Database

Lowe Syndrome Mutation Database

CentoMD

Cystic Fibrosis Mutation Database

Mediterranean Founder Mutation Database

MDPD

EffectiveDB

Orthodisease

MTCards

BRISSKit

HGMD

16S and 23S Ribosomal RNA Mutation Database

The Centre for Applied Genomics Databases

Electron density server at Uppsala university

Collagen Mutation Database (CMD)

Names
More detailed information about this field from each metasource.

Collagen Mutation Database (CMD)
metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:49.428764

cmd
metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:49.428764

Publications:

Publications
More detailed information about this field from each metasource.

http://dx.doi.org/10.1002/humu.21438
metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:49.428764

Tags:

Tags
More detailed information about this field from each metasource.

pathology
metasource: bio.tools
version: extracted_at: 2022-11-04T11:36:49.428764