biolink:VariantToDiseaseAssociation |
CLINVAR |
biolink:associated_with_increased_likelihood_of |
Likely pathogenic |
reviewed_by_expert_panel |
MONDO |
2037 |
biolink:VariantToDiseaseAssociation |
CLINVAR |
biolink:causes |
Pathogenic |
practice_guideline |
MONDO |
23 |
biolink:VariantToDiseaseAssociation |
CLINVAR |
biolink:causes |
Pathogenic |
reviewed_by_expert_panel |
MONDO |
8578 |
biolink:VariantToGeneAssociation |
CLINVAR |
biolink:is_sequence_variant_of |
|
|
NCBIGene |
11428 |
biolink:VariantToPhenotypicFeatureAssociation |
CLINVAR |
biolink:contributes_to |
|
|
HP |
206 |