update exclusion-disease-gene.tsv #190
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This update is based on [this PR](monarch-initiative/mondo#8624) NOTE: SOP is needed surrounding this exclusion document. (In addition, we need to create a standard for the exclusion reason).
| OMIM:619478 MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic https://orcid.org/0000-0002-4142-7153 digenic | ||
| OMIM:300818 MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 https://orcid.org/0000-0002-4142-7153 "disease caused by a somatic mutation, therefore a gene association stating this is due to a germline mutation should not be added" | ||
| OMIM:278850 MONDO:0010218 46,XX sex reversal 2 https://orcid.org/0000-0002-4142-7153 "evidence that familial 46,XX sex reversal is caused by heterozygous duplication or triplication of a 68-kb regulatory region (XXSR) -584 to -516 kb upstream of the SOX9 gene (608160) on chromosome 17q24." |
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With the new definition that the exclusion file is for gene associations that are otherwise valid by the "rule", but after curator review it is decided that the gene association should not be added into Mondo as disease defining, only OMIM:278850 MONDO:0010218 46,XX sex reversal 2 should be maintained in the exclusion file. See comment here.
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OK. There was a lot of rows changed as well, but it looks like it may have just been TSV formatting. I thought Sabrina had manually removed/added other entries. I thought that the one case in that comment was just 1 example; not the only row that should be in here.
If that is indeed the only entry that should be in here, I'll change this file now. I'll do it in this PR, as well as #188 (and run the release again for it).
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Closing this in favor of: |
This update is based on this PR
NOTE: SOP is needed surrounding this exclusion document. (In addition, we need to create a standard for the exclusion reason).
Joe: This is a re-opening of #187, which was accidentally merged too soon.