Geno2MP specifications


Unique identifier OMICS_17666
Name Geno2MP
Alternative name Genotype to Mendelian Phenotype
Restrictions to use None
Community driven No
Data access Browse
User data submission Not allowed
Maintained Yes

Geno2MP citations


Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

PMCID: 5586389
PMID: 28874452
DOI: 10.1534/genetics.117.203067

[…] riants at the locus found in other databases. The success of efforts, such as Deciphering-Developmental-Disorders-Study (2015), ExAC and its expansion project gnomAD (Genome Aggregation Database) (), Geno2MP (), and the DiscovEHR Collaboration (; ), in creating publically available datasets is a result of these diagnostic needs. Use of integrated match-making programs that comprise the Matchmaker […]


Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

PMCID: 4902791
PMID: 26656649
DOI: 10.1038/gim.2015.161

[…] s a straightforward approach to establishing a causal relationship. This is the rationale for developing infrastructure for large-scale release of combined genotype-to-structured phenotype data (e.g. Geno2MP), structured phenotype matching (e.g. PhenomeCentral), gene matching (e.g. GeneMatcher, and variant matching (e.g. GenomeConnect, Decipher/DDD,), which are being coordinated via efforts such a […]

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