kevinschaper
commented
1 year ago 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
@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]