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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 citations


Computational identification and validation of alternative splicing in ZSF1 rat RNA seq data, a preclinical model for type 2 diabetic nephropathy

Sci Rep
PMCID: 5955895
PMID: 29769602
DOI: 10.1038/s41598-018-26035-x

[…] ed transcripts is more than three times the number of annotated genes; for protein coding genes, this ratio increases to 7:1. It has also been reported that 50–60% of disease-causing mutations in the human gene mutation database affect splicing,. These findings have resulted in a growing interest in understanding alternative splicing patterns in disease. Moreover, targeting splicing regulatory pro […]


Incorporating epilepsy genetics into clinical practice: a 360°evaluation

PMCID: 5945675
PMID: 29760947
DOI: 10.1038/s41525-018-0052-9

[…] 25 were called using the Strand NGS software. Rare or low frequency variants were evaluated in an internally developed pipeline. Included in this evaluation were literature and database searches like Human Gene Mutation Database (HGMD), Exome Aggregation Consortium (ExAC) database, the Genome Aggregation Database (gnomAD). Synonymous variants and variants in autosomal dominant genes which had been […]


Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients

PMCID: 5944100
PMID: 29743074
DOI: 10.1186/s12931-018-0789-9

[…] NV database. In addition, the clinical significance of the sequences was annotated using Clinvar (http://www.ncbi.nlm.nih.gov/clinvar/), OMIM (http://omim.org/), Uniprot (http://www.uniprot.org/) and HGMD (http://www.hgmd.org). Variants with cutoff values greater than 0.6 in the dbscSNV database were defined as splice-altering. Other synonymous variants that did not fulfill the above mentioned con […]


VAReporter: variant reporter for cancer research of massive parallel sequencing

BMC Genomics
PMCID: 5954270
PMID: 29764369
DOI: 10.1186/s12864-018-4468-5

[…] al databases, including dbSNP [], 1000 Genomes [], COSMIC, the Cancer Gene Census [], dbNSFP [], Clinvar [], OMIM [], RefSeq [], UniProt [], Pfam [], GO [], KEGG [], DrugBank [], the DGIdb [] and the Human Gene Mutation Database [] (HGMD), were compiled as local annotation databases to facilitate the interpretation of biological effects introduced by genetic alterations. A high-performance computi […]


Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing impaired subjects

BMC Med Genet
PMCID: 5941635
PMID: 29739340
DOI: 10.1186/s12881-018-0585-x

[…] Deafness Variation Database: http://deafnessvariationdatabase.org.ESP6500:http://evs.gs.washington.edu/EVS/Gene Marker: https://softgenetics.com/GeneMarker.phpHuman Gene Mutation Database: http://www.hgmd.cf.ac.uk/ac/index.phpMutation Taster: http://www.mutationtaster.org.NCBI: http://www.ncbi.nlm.nih.govNetGene 2 Server: http://www.cbs.dtu.dk/services/NetGene2NNSPLICE: http://www.fruitfly.org/seq […]


Delineation of the genetic and clinical spectrum of Phelan McDermid syndrome caused by SHANK3 point mutations

Mol Autism
PMCID: 5921983
PMID: 29719671
DOI: 10.1186/s13229-018-0205-9

[…] rents or present in population controls (Additional file : Table S4). An inherited frameshift variant reported as pathogenic in two unrelated children with ASD [, ], and classified as damaging in the Human Gene Mutation Database, is in fact intronic when annotated in the correct reference sequence, NM_033517.1 [], and is present 173 times in gnomAD (chr22:g.51135705dupG, hg19). An inherited substi […]

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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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