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The Monarch Initiative Helpdesk
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new disease association HEATR3 #65

Closed nicolevasilevsky closed 1 year ago

nicolevasilevsky commented 1 year ago

Please see this ticket from @valwood in the mondo repo: https://github.com/monarch-initiative/mondo/issues/4980

How do the gene to disease associations get into Monarch?

Val Wood shared a paper that suggests the gene HEATR3 is causal for Diamond-Blackfan anemia but we don’t want to add this to Mondo because MONDO:0015253 Diamond-Blackfan anemia is a grouping class that groups all of the subtypes with specific gene variations.

nicolevasilevsky commented 1 year ago

Hi @valwood - the monarch gene to disease associations come from OMIM. Let me know if you have any more questions, I'll close this for now.