susceptibility_by_gene

http://purl.obolibrary.org/obo/mondo/patterns/susceptibility_by_gene.yaml Examples - [autism, susceptibility to, X-linked 5](http://purl.obolibrary.org/obo/MONDO_0010449), [bulimia nervosa, susceptibility to, 2](http://purl.obolibrary.org/obo/MONDO_0012461), [nephrolithiasis susceptibility caused by SLC26A1](http://purl.obolibrary.org/obo/MONDO_0020722)'

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

• https://orcid.org/0000-0002-6601-2165
• https://orcid.org/0000-0001-5208-3432

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