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update exclusion-disease-gene.tsv
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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).
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sabrinatoro committed Jan 31, 2025
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Showing 1 changed file with 7 additions and 6 deletions.
13 changes: 7 additions & 6 deletions data/exclusions-disease-gene.tsv
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omim_id mondo_id mondo_label orcid exclusion_reason_comment
OMIM:603956 MONDO:0002974 cervical cancer' https://orcid.org/0000-0002-4142-7153 evidence of various genes involved
OMIM:619151 MONDO:0030894 "AMED syndrome, digenic'" https://orcid.org/0000-0002-4142-7153 digenic
OMIM:603956 MONDO:0002974 cervical cancer https://orcid.org/0000-0002-4142-7153 evidence of various genes involved
OMIM:619151 MONDO:0030894 AMED syndrome, digenic https://orcid.org/0000-0002-4142-7153 digenic
OMIM:158901 MONDO:0008031 https://orcid.org/0000-0002-4142-7153 digenic
OMIM:108770 MONDO:0007171 atrial standstill 1' https://orcid.org/0000-0002-4142-7153 digenic
OMIM:620040 MONDO:0031057 "dyskeratosis congenita, digenic'" https://orcid.org/0000-0002-4142-7153 digenic
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:108770 MONDO:0007171 atrial standstill 1 https://orcid.org/0000-0002-4142-7153 digenic
OMIM:620040 MONDO:0031057 dyskeratosis congenita, digenic https://orcid.org/0000-0002-4142-7153 digenic
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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