Linked Data Hub UI - Clinical Genome Resources

NOTE: LDH is an API service. The API was originally developed in support of ClinGen. This legacy UI was used to ease illustration, demonstration, and explanation of its approach and content.

It is not the primary application or interface, which is the API itself
This UI is no longer maintained and in some sense a distraction.
Therefore, this UI is deprecated and slated for removal.

Linking data entities from different sources

The ClinGen Linked Data Hub (LDH) facilitates efficient access to collated information such as links and select data from different data sources, which are made available using RESTful APIs. Currently, LDH focuses on linking information about human genes and variants to support ClinGen curation efforts. Learn more

Explore the Linked Data Hub

Lookup using identifiers or search using allele frequency or molecular consequence

Select entity type from the dropdown and lookup using generic identifiers for the selected entity type. Alternatively, select “All Types” and enter any type of identifier. Examples are provided.

Entity Type

Select entity type from the dropdown and lookup using multiple generic identifiers for the selected entity type. Examples are provided.

Entity Type

Enter the minimum and maximum allele frequencies you want to search variants by. Optionally, enter one or more genes to further refine your search.

Select entity type from the dropdown.

Entity Type

Contribute data and links to LDH

Do you have links to supporting evidence which will be useful for variant interpretation or gene validity or clinical actionability?

Do you have data that is not available in any other web-accessible data source and would you like to embed such data within LDH?

LDH content and access

Are you looking for a single source of information for your curation efforts?

Do you want to learn about the different kinds of entities stored in LDH?

Do you want to explore ways to access content in LDH?

LDH Stats

Subject Entity Type	Count
Gene	7,173
Variant	21,489,683
Total	1240550761

Linked Entity Type	Count
Allele Molecular Consequence	13,678,838
BRCA Exchange	75,785
CIViC	710
In Silico Prediction Score	1,535,838
In Silico Prediction Score Embedded	114,186
MaveDB	363,460
OpenCRAVAT	9,761
Pathogenicity Classification	10,506
Population Allele Frequency Source	1,042,703
Population Allele Frequency	9,887,706
Total	1240550761

External-Storage Entity Type	Count
gnomAD Exomes V4.1	205,456,047
gnomAD Genomes V4.1	909,160,392
Revel Score	77,669,516
Variants in Literature (PubMed)	48,457
Total	1240550761