The Human Gene Mutation Database (HGMD®) Professional has over 456,000 inherited disease-relevant mutations and polymorphisms–nearly 55% more than in the public version. In 2022 alone, HGMD Professional added nearly 46,000 new mutation entries, which won't be available in the public version until 2025.
Only with HGMD Professional can you:
But that's not it. Check out the table below for a full comparison of HGMD Public vs. HGMD Pro.
| 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 | |
If you're using the public version of HGMD, your data is 3 years behind. The HGMD Professional trial is 100% FREE and has ZERO commitment. The world's largest database of inherited human mutations is just a few clicks away.
Request your free trial of HGMD Professional today.
