If you currently use the public version of HGMD, there is a lot of content that you are missing. Not only is the public version of the database three years behind in terms of published mutation entries, it lacks a multitude of search features critical to elucidating clinically significant associations.
| Feature | HGMD Public | HGMD Pro |
|---|---|---|
| Up-to-date content | ||
| Displays mutations 3 years or older | X | |
| Updates mutations every 3 months | X | |
| Search features | ||
| Search by gene symbol | X | X |
| Search by gene description | X | X |
| Search by OMIM number | X | X |
| Search by disease/phenotype | X | X |
| Search missense/nonsense variants | X | X |
| Search splice mutations | X | X |
| Search regulatory mutations | X | X |
| Search small deletions | X | X |
| Search small indels | X | X |
| Search gross deletions | X | X |
| Search gross insertions | X | X |
| Search complex rearrangements | X | X |
| Search repeat variations | X | X |
| Search by chromosomal location | X | |
| Search by HGNC/OMIM/GDB/Entrez ID | X | |
| Search by RefSeq transcript | X | |
| Search by gene ontology | X | |
| Search using operators (+,-,*,"") | X | |
| Search phenotype using UMLS semantic | X | |
| Search phenotype using HGMD phenotype | X | |
| Search references by first author | X | |
| Search references by PubMed journal | X | |
| Search references by PubMed ID | X | |
| Search references by publication year | X | |
| Search references by HGMD gene | X | |
| Search references by Medline journal abbreviation | X | |
| Batch search | X | |
| Advanced search (by substitution, motif, function,etc.) | X | |
| Display features | ||
| HGMD accession ID | X | X |
| Codon change | X | X |
| Amino acid change | X | X |
| Codon number | X | X |
| Associated phenotype | X | X |
| References | X | X |
| Misense/nonsense mutations | X | X |
| Splicing mutations | X | X |
| Regulatory mutations | X | X |
| Small deletions | X | X |
| Small insertions | X | X |
| Gross deletions | X | X |
| Gross insertions/duplications | X | X |
| Complex rearrangements | X | X |
| Repeat variations | X | X |
| cDNA sequence | X | X |
| Extended cDNA | X | |
| Mutation's first published report | X | |
| Related genes | X | |
| Gene ontology | X | |
| Variant class (DM, DM?, FP, DP, DFP) | X | |
| Gene aliases | X | |
| Mutation sorted by location | X | |
| Mutation sorted by phenotype | X | |
| Mutation sorted by author | X | |
| Mutation sorted by year | X | |
| Mutation sorted by entrydate | X | |
| Extra information (HGVS, VCF, rankscore, etc.) | X | |
| Comparison between hg19 and hg38 | X | |
| Amino acid comparison | X | |
| dbNSFP predictions (CADD, MutationTaster, SIFT, Polyphen, etc. | X | |
| Orthologous amino acid conservation comparison | X | |
