CDE Catalog

***Please contact NINDS CDE team (NINDSCDE@emmes.com) in case you encounter any search difficulties.***

The CDE Catalog is a directory of the available NINDS CDEs. Users can search the Catalog to isolate a subset of the CDEs (e.g., all stroke-specific CDEs, etc.), and to view and download details about the CDEs.

Select any filter below to search the CDE Catalog.

For best results, clear form between searches. In addition, when specifying NeuroRehab, Sport Related Concussion or Traumatic Brain Injury as the Disease, please select a Sub-Disease as well.

NeuroRehab Comprehensive includes all CDE recommendations.

NeuroRehab General includes all CDE recommendations that are not disease specific.

All other NeuroRehab Sub-Diseases include recommendations specific to existing NINDS CDE project disorders.

Search Form

Displaying 126 - 150 of 451
Operations
Selected 25 rows in this page.  
The search results below can be downloaded by clicking the checkboxes on the far left side of the table. Select the header checkbox to select all CDEs listed on the first page. Then choose CDE Detailed Report from the Choose an operation dropdown menu.
CDE ID CDE Name Definition Classification CRF Name Copyrighted or trademarked Disease Name Sub Disease Name
C58781 Gender identity type other text

The free-text field related to 'Gender identity type', specifying other text

Supplemental General Core Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C00035 Gender type

Self-reported gender of the participant/subject

Core Demographics Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C12782 Gene additional variants unknown significance indicator

Whether there are additional variants in other genes of unknown significance

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C17891 Gene additional variants unknown significance text

Text about additional variants in other genes of unknown significance

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C12804 Gene cDNA variant or mutation name

The Human Genome Organisation (HUGO) variant or mutation nomenclature of the complementary deoxyribonucleic acid (cDNA) variant or mutation

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C12795 Gene coding region sequenced indicator

For missense/nonsense variant or point mutations or pseudoexons, whether the entire coding region was sequenced for the allele of the gene

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C12789 Gene deletions duplications limits clearly defined indicator

Whether the limits of deletions and duplications are defined

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C12788 Gene exon copy number tested indicator

Whether the copy number was directly tested for all exons

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C12790 Gene exon first deleted duplicated name

Identify first exon deleted or duplicated

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C12791 Gene exon last deleted duplicated name

Identify exon last deleted or duplicated

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C12793 Gene exon predicted reading frame type

Type of predicted reading frame

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C12800 Gene missense nonsense variant or point mutation insertion deletion type

The insertion deletion type of the missense/nonsense variant or point mutation

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C17889 Gene missense nonsense variant or point mutation location exon text

Text about missense/nonsense variant or point mutation at the exon

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C17894 Gene missense nonsense variant or point mutation location intron text

Text about missense/nonsense variant or point mutation at the intron

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C17893 Gene missense nonsense variant or point mutation location other text

Text about missense/nonsense variant or point mutation at locations other than the exon and intron

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C12798 Gene missense nonsense variant or point mutation location type

Type of location of the missense/nonsense variant or point mutation

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C12805 Gene mRNA variant or mutation name

The Human Genome Organisation (HUGO) variant or mutation nomenclature of the messenger ribonucleic acid (mRNA) variant or mutation

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C18873 Gene mutation detected digenic result specify

The free-text field related to 'Gene mutation detected result type'. Type of gene mutation detected

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C12690 Gene name

Name of the gene analyzed

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C12801 Gene point mutation nonsense variant codon type

Type of nonsense variant or point mutation

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C12794 Gene promoter deletion indicator

Whether known gene promoters were deleted

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C12806 Gene protein variant or mutation name

The Human Genome Organisation (HUGO) variant or mutation nomenclature of the protein variant or mutation

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C12818 Gene second allele identical indicator

Whether allele #2 is identical to allele #1

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C12807 Gene second disease allele indicator

Whether a second disease allele was identified

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
C12808 Gene sequenced with no variant or mutation indicator

Whether there are additional genes sequenced with no variants or mutations detected

Supplemental Mutation Analysis Facioscapulohumeral Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy
Displaying 126 - 150 of 451

The NINDS CDE Team does not post proprietary instruments/scales recommended by the CDE Working Groups on this website. This includes, but is not limited to, copyrighted or trademarked instruments/scales. Information about recommended instruments can be found in the Notice of Copyright (NOC) documents under ‘CRF Module/Guideline’ on each disorder’s data standards page. For any questions regarding these instruments/scales please contact the corresponding owner/author. The NINDS CDE Team is not responsible for the availability or content of these external sites, nor does the NINDS CDE Team endorse, warrant or guarantee the products, services or information described or offered at these other internet sites.