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"Also known as" on gene pages mixes up genes and diseases (suggesting problem in ingest) #522

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nlharris opened this issue Sep 12, 2023 · 1 comment

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@nlharris
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nlharris commented Sep 12, 2023

@pnrobinson wrote (in Slack):

On the gene page where there is a field called Also known as, For FBN1, I see this:
MASS, OCTD, SGS, Marfan syndrome, asprosin, FBN, MFS1, WMS, fibrillin 1 (Marfan syndrome)
-- this mixes up genes and diseases -- something is going wrong with the ingest

[heritability issue moved to https://github.com/monarch-initiative/monarch-app/issues/314]

@nlharris nlharris changed the title Gene page issues: "Also known as" mixes up genes and diseases "Also known as" on gene pages mixes up genes and diseases (suggesting problem in ingest) Sep 12, 2023
@kevinschaper
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Right now the ingest is bringing together all of the values from alias_symbol, alias_name, prev_symbol and prev_name:

Here's (with some column reduction and massaging) is what that looks like in hgnc_complete_set.txt:

hgnc_id symbol alias_symbol alias_name prev_symbol prev_name
HGNC:3603 FBN1 MASS, OCTD, SGS Marfan syndrome, asprosin FBN, MFS1, WMS fibrillin 1 (Marfan syndrome)

and on the site:

https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3603

Screenshot 2023-09-12 at 10 05 14 AM

@kevinschaper kevinschaper transferred this issue from monarch-initiative/helpdesk Sep 19, 2023
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