Home > Bioinformatics Products Overview > Clinical Research Databases & Insights Portfolio > HGMD (Human Gene Mutation Database) > HGMD Pro v Public
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 |