Online Mendelian Inheritance in Man (OMIM) has a new Interface

Online Mendelian Inheritance in Man (OMIM), an online catalog of human genes and genetic disorders, has new a interface.  Originally, the most common method used to access OMIM, was via the National Center for Biology Information (NCBI), but NBCI has been unable to receive updates on OMIM for the past several months.

The following statement is from the NCBI point of entry website for OMIM:

“NCBI has not been able to obtain OMIM updates from Johns Hopkins University (JHU) since February 22, 2011. On January 1, 2011, NHGRI assumed funding responsibility for OMIM at JHU and has been working to conclude an agreement with JHU to allow NIH to obtain OMIM updates. NCBI will resume updates to OMIM as soon as this agreement is finalized.”

In the meantime, the current interface for OMIM is http://www.omim.org/ This version includes all updates to OMIM and can be searched using the same techniques (i.e. * wildcard character searches and/or Boolean Operators AND, OR, NOT) that can be used with the NCBI interface.

This interface also includes the following advance search features:

OMIN: Allows you to to search for your terms in specific sections of the OMIM record.

Clinical Synopsis: Allows you  to search for a gene variant’s effects on specific organ systems.

Gene Map: Allows you to search by cytogenetic location.