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 |