Hello,

I have around 900 gene symbols and its Gene ID (HGNC) for which I need to extract all its corresponding OMIM phenotype. Is there a way to do it or a tool that does this ?

For example, *ABCA1* with HGNC ID 13666, the info to extract is listed here in column "[Phenotype][1]"


Thank you,


  [1]: https://www.omim.org/entry/600046?search=abca1&highlight=abca1
I guess quering OMIM itself isn't possible. But you can use [BioMart][1] for it:

- Database: Ensembl Genes
- Dataset: Human Genes
- Copy&Paste your gene names to: Filters --> Gene --> Input external references ID list --> Gene Name(s)
- Select Attributes --> Gene --> Gene name and Phenotype --> Phenotype description  and Phenotype --> Source name 
- Click Results

You can export the result as CSV or XLS. You can then filter the result for "MIM Morbid" in the "Source Name" column to get these phenotype reported by OMIM.

fin swimmer


  [1]: http://www.ensembl.org/biomart/martview