CDE Catalog

***Please contact the NINDS CDE Team (NINDSCDE@emmes.com) if 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 (SRC) or Traumatic Brain Injury (TBI) as the Disease, please select a Subdisease as well.

NeuroRehab Comprehensive includes all NeuroRehab CDE recommendations. NeuroRehab General includes all NeuroRehab CDE recommendations that are not disease specific. All other NeuroRehab Subdiseases include recommendations specific to existing NINDS CDE project disorders.

Choose your Time Frame for your SRC study (Acute (time of injury until 72 hours), Subacute (after 72 hours to 3 months), and Persistent/Chronic (3 months and greater post-concussion) or Comprehensive if your study falls across the study time frames.

Choose your type of TBI study (Acute Hospitalized, Concussion/Mild TBI, Moderate/Severe TBI: Rehabilitation, or Epidemiology) or Comprehensive if your study falls outside of the study types or incorporates aspects of more than one type of study.

Search Form

Displaying 1076 - 1100 of 1146
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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 Subdisease Name
C12797 Gene targeted variant mutational analysis type

Type of targeted variant or mutational analysis performed for the gene

Supplemental Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C12798 Gene missense nonsense variant point mutation location type

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

Supplemental Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C12800 Gene missense nonsense variant point mutation insertion deletion type

Type of the insertion deletion of the missense/nonsense variant or point mutation

Supplemental Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C12801 Gene point mutation nonsense variant codon type

Type of nonsense variant or point mutation

Supplemental Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C12802 Gene variant mutation mRNA analysis performed indicator

Indicator of whether messenger ribonucleic acid (mRNA) analysis was performed

Supplemental Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C12803 Gene variant mutation implications confirmed mRNA analysis indicator

Indicator of whether the messenger ribonucleic acid (mRNA) analysis confirmed implications of genetic analysis

Supplemental Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C12804 Gene cDNA variant mutation name

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

Supplemental Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C12805 Gene mRNA variant mutation name

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

Supplemental Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C12806 Gene protein variant mutation name

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

Supplemental Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C12807 Gene second disease allele indicator

Indicator of whether a second disease allele was identified

Supplemental Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C12808 Gene sequenced with no variant mutation indicator

Indicator of whether there are additional genes sequenced with no variants or mutations detected

Supplemental Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C12818 Gene second allele identical indicator

Indicator of whether allele #2 is identical to allele #1

Supplemental Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C12944 Variant mutational analysis performed indicator

Indicator of whether the variant or mutational analysis was performed on the participant

Core Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C17889 Gene missense nonsense variant point mutation location exon text

The free-text field about missense/nonsense variant or point mutation at the exon

Supplemental Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C17890 Allele number one missense nonsense variant or point mutation subclass information type

Type of missense/nonsense variant or point mutation subclass information, first allele number one

Supplemental Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C17891 Gene additional variants unknown significance text

The free-text field about additional variants in other genes of unknown significance

Supplemental Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C17893 Gene missense nonsense variant point mutation location other text

The free-text field about missense/nonsense variant or point mutation at locations other than the exon and intron

Supplemental Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C17894 Gene missense nonsense variant point mutation location intron text

The free-text field about missense/nonsense variant or point mutation at the intron

Supplemental Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C17895 Genes sequenced with no mutations text

The free-text field about additional genes sequenced with no mutations detected

Supplemental Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C17896 Variant mutational analysis not performed reason

Reason for why the mutational analysis was not performed

Supplemental Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C18873 Gene mutation detected digenic result specify

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

Core Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C18874 Gene variant mutation category other text

The free-text field related to 'Gene variant or mutation category', specifying other text. Category of the variant or mutation detected on the gene

Supplemental Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C18875 Gene targeted variant mutational analysis other text

The free-text field related to 'Gene targeted variant or mutational analysis type', specifying other text. Type of targeted variant or mutational analysis performed for the gene

Supplemental Mutation Analysis Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C01700 Specimen accession number

Number with which the specimen taken for the tests being reported was accessioned to the record storage facility

Supplemental Laboratory Tests and Tracking Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
C01701 Lab specimen collection date and time

Date (and time if applicable and known) when the specimen was collected

Core Laboratory Tests and Tracking Spinal Muscular Atrophy Spinal Muscular Atrophy (SMA)
Displaying 1076 - 1100 of 1146

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.