biolink:VariantToDiseaseAssociation |
CAID |
biolink:associated_with_increased_likelihood_of |
|
Likely Pathogenic |
MONDO |
384 |
biolink:VariantToDiseaseAssociation |
CAID |
biolink:causes |
|
Pathogenic |
MONDO |
485 |
biolink:VariantToDiseaseAssociation |
CAID |
biolink:genetically_associated_with |
|
Uncertain Significance |
MONDO |
485 |
biolink:VariantToDiseaseAssociation |
CLINVAR |
biolink:associated_with_increased_likelihood_of |
|
Likely Pathogenic |
MONDO |
1757 |
biolink:VariantToDiseaseAssociation |
CLINVAR |
biolink:causes |
|
Pathogenic |
MONDO |
2113 |
biolink:VariantToDiseaseAssociation |
CLINVAR |
biolink:genetically_associated_with |
|
Uncertain Significance |
MONDO |
2999 |
biolink:VariantToGeneAssociation |
CAID |
biolink:is_sequence_variant_of |
|
|
HGNC |
1347 |
biolink:VariantToGeneAssociation |
CLINVAR |
biolink:is_sequence_variant_of |
|
|
HGNC |
6728 |