From cf52a749365ff4d839c38caf7e7aec7ca920daa6 Mon Sep 17 00:00:00 2001 From: Joe Flack Date: Thu, 30 Jan 2025 23:15:31 -0500 Subject: [PATCH] Exclusions & Protections - Update: Added entries to exclusions-disease-gene.tsv --- data/exclusions-disease-gene.tsv | 9 ++++++++- 1 file changed, 8 insertions(+), 1 deletion(-) diff --git a/data/exclusions-disease-gene.tsv b/data/exclusions-disease-gene.tsv index 1f64460..fcf3e88 100644 --- a/data/exclusions-disease-gene.tsv +++ b/data/exclusions-disease-gene.tsv @@ -1 +1,8 @@ -omim_id mondo_id mondo_label orcid comment \ No newline at end of file +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." \ No newline at end of file