Pivotal role of the muscle-contraction pathway in cryptorchidism and evidence for genomic connections with cardiomyopathy pathways in RASopathies

Table 1 The summary of CO associated candidate loci

Locus type / study approach	Number of loci
DNA level
Chromosomal aberrations	32
Copy number variants (CNVs)	2
Clinical syndromes	42
Knock-out and transgenic experiments	40
Association studies	12
RNA level
Expression study	112
Protein level
Injection of exogenous protein	1
Total	217*

* Unique loci (individual locus/gene reported by multiple studies was counted only once).

ISSN: 1755-8794