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monarch-initiative / monarch-ui

The previous version of the Monarch Initiative website
https://previous.monarchinitiative.org/
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Example of wrong ClinVar disease association #204

Closed pnrobinson closed 5 years ago

pnrobinson commented 5 years ago

Angelman syndrome (https://omim.org/entry/105830?search=angelman&highlight=angelman) is not caused by MECP2 mutations (https://beta.monarchinitiative.org/disease/OMIM:105830#gene) It is unreliable to extract gene<->disease associations from ClinVar If you follow this, it relates to this 2001 publication, https://www.ncbi.nlm.nih.gov/pubmed/11283202, This does not reflect current knowledge anymore, MECp2 is not mentioned on the OMIM page at all for instance.

monicacecilia commented 5 years ago

dupe of #139 - closing in favour of the discussion going on there. AND adding this example to that ticket.