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susceptibility_by_gene

http://purl.obolibrary.org/obo/mondo/patterns/susceptibility_by_gene.yaml

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

Examples - autism, susceptibility to, X-linked 5, bulimia nervosa, susceptibility to, 2, nephrolithiasis susceptibility caused by SLC26A1'

Contributors

Name

{disease} susceptibility, {gene} form

Annotations

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