susceptibility_by_gene¶
Description¶
This pattern should be used for terms in which a gene dysfunction causes a predisposition or susceptibility towards developing a specific disease. This pattern is a sub-pattern of inherited_susceptibility.yaml
Contributors¶
Name¶
{disease} susceptibility, {gene} form
Annotations¶
- exact_synonym: {disease} susceptibility caused by {gene}
Definition¶
A susceptibility or predisposition to {disease} in which the cause of the disease is a mutation in the {gene} gene.
Equivalent to¶
(inherited disease susceptibility and (has material basis in germline mutation in some {gene}) and (predisposes towards some {disease}))
Data preview¶
defined_class | defined_class_label | disease | disease_label | gene | gene_label |
---|---|---|---|---|---|
MONDO:0012153 | Alzheimer disease 9 | MONDO:0015140 | early-onset autosomal dominant Alzheimer disease | http://identifiers.org/hgnc/37 | ABCA7 |
MONDO:0011896 | Parkinson disease 11, autosomal dominant, susceptibility to | MONDO:0008199 | late-onset Parkinson disease | http://identifiers.org/hgnc/11960 | GIGYF2 |
MONDO:0012466 | Parkinson disease 13, autosomal dominant, susceptibility to | MONDO:0005180 | Parkinson disease | http://identifiers.org/hgnc/14348 | HTRA2 |
MONDO:0013653 | Parkinson disease 18, autosomal dominant, susceptibility to | MONDO:0005180 | Parkinson disease | http://identifiers.org/hgnc/3296 | EIF4G1 |
MONDO:0013340 | Parkinson disease 5, autosomal dominant, susceptibility to | MONDO:0005180 | Parkinson disease | http://identifiers.org/hgnc/12513 | UCHL1 |
See full table here