Exclusions & Protections

- Update: Added entries to exclusions-disease-gene.tsv
monarch-initiative · Jan 31, 2025 · cf52a74 · cf52a74
1 parent 6f92b6a
commit cf52a74
Showing 1 changed file with 8 additions and 1 deletion.
diff --git a/data/exclusions-disease-gene.tsv b/data/exclusions-disease-gene.tsv
@@ -1 +1,8 @@
-omim_id	mondo_id	mondo_label	orcid	comment
+omim_id	mondo_id	mondo_label	orcid	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: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."