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¶

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 (disease has basis in dysfunction of 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:0010340	Asperger syndrome, X-linked, susceptibility to, 1	MONDO:0005259	Asperger syndrome	http://identifiers.org/hgnc/14289	NLGN3
MONDO:0010343	Asperger syndrome, X-linked, susceptibility to, 2	MONDO:0005259	Asperger syndrome	http://identifiers.org/hgnc/14287	NLGN4X
MONDO:0014786	IgA nephropathy, susceptibility to, 3	MONDO:0005342	IgA glomerulonephritis	http://identifiers.org/hgnc/11270	SPRY2
MONDO:0020715	Multiple system atrophy 1, susceptibility to	MONDO:0007803	multiple system atrophy	http://identifiers.org/hgnc/25223	COQ2

See full table here