HGMD statistics

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Citations per year

Number of citations per year for the bioinformatics software tool HGMD

Tool usage distribution map

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Associated diseases

This word cloud represents HGMD usage per disease context

Popular tool citations

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HGMD specifications


Unique identifier OMICS_00281
Alternative name Human Gene Mutation Database
Restrictions to use License purchase required
Community driven No
Data access File download, Browse
User data submission Not allowed
Registration required Yes
Maintained Yes


  • Primates
    • Homo sapiens


  • person_outline Peter D. Stenson
  • person_outline David Cooper

Publications for Human Gene Mutation Database

HGMD institution(s)
School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
HGMD funding source(s)
Supported by QIAGEN Inc. through a License agreement with Cardiff University.

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