GeneMatcher statistics

info info

Citations per year


Popular tool citations

chevron_left Variant effect prediction chevron_right

Tool usage distribution map

Tool usage distribution map
info info

Associated diseases

Associated diseases
Want to access the full stats & trends on this tool?

GeneMatcher specifications


Unique identifier OMICS_09667
Name GeneMatcher
Interface Web user interface
Restrictions to use None
Computer skills Basic
Stability Stable
Maintained Yes


  • Primates
    • Homo sapiens


  • person_outline Nara Sobreira

Publications for GeneMatcher

GeneMatcher citations


A homozygous missense variant in VWA2, encoding an interactor of the Fraser complex, in a patient with vesicoureteral reflux

PLoS One
PMCID: 5774751
PMID: 29351342
DOI: 10.1371/journal.pone.0191224

[…] patients with comparable phenotypes and mutations in this gene (please see section for details). the genes vwa2, ttll12, nell2, and tssk4 were furthermore submitted to the online database genematcher ( genematcher facilitates the exchange of genetic and phenotypic information by connecting clinicians and researchers world-wide. however, none of the genes […]


Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

PMCID: 5775069
PMID: 29379881
DOI: 10.1212/NXG.0000000000000209

[…] a biallelic 3-bp deletion (p.k19del) in chp1 that cosegregates with the disease. neither focused screening for chp1 variants in 2 cohorts (arca: n = 319 and neuromics: n = 657) nor interrogating genematcher yielded additional variants, thus revealing the scarcity of chp1 mutations. we show that mutant chp1 fails to integrate into functional protein complexes and is prone to aggregation, […]


Biallelic variants in KIF14 cause intellectual disability with microcephaly

Eur J Hum Genet
PMCID: 5839044
PMID: 29343805
DOI: 10.1038/s41431-017-0088-9

[…] malformations., the successful gathering of information of affected individuals with similar phenotypes and likely disease-causing variants in the candidate causative gene was possible due to genematcher ( []., the laboratory and bioinformatics analysis for the variant identification was performed as previously described []. the study was approved by the bioethics […]


Identification of Inherited Retinal Disease Associated Genetic Variants in 11 Candidate Genes

PMCID: 5793174
PMID: 29320387
DOI: 10.3390/genes9010021

[…] the past few years, the erdc was able to identify several genes associated with irds [,,,]. to enable discovery of additional families harboring overlapping pathogenic variants the online web-tool genematcher may also be utilized []. this tool allows for researchers and clinicians to upload a gene with information about the identified genetic variants and the phenotype found in the patient […]


Computer face matching technology using two dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability

BMC Biotechnol
PMCID: 5735520
PMID: 29258477
DOI: 10.1186/s12896-017-0410-1

[…] phenotyping in the era of mps has led to deep phenotyping projects based on the human phenotype ontology [] and international collaborative initiatives such as decipher [], phenomecentral [], genematcher [], mygene2 [] and matchmaker exchange []. in addition to a range of physical, cognitive and behavioural characteristics, deep phenotyping software requires the clinician to accurately […]


Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

Nat Commun
PMCID: 5635015
PMID: 29018201
DOI: 10.1038/s41467-017-00932-7

[…] the c.239c>a mutation leads to a p.t80k substitution in nrf2 at a location within the etge motif of the neh2 domain, the hinge that facilitates the binding to keap1 (fig.¬†). with the help of genematcher (, three further patients with mutations in nfe2l2 were detected (supplementary table¬†).fig. 2 , patient 2, a 13-year-old caucasian boy from new jersey, usa, […]

Want to access the full list of citations?
GeneMatcher institution(s)
Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland; FS Consulting, Salem, MA, USA
GeneMatcher funding source(s)
Supported by NHGRI (1U54HG006542).

GeneMatcher reviews

star_border star_border star_border star_border star_border
star star star star star

Be the first to review GeneMatcher