Familial advanced sleep-phase syndrome known to be associated with mutations in the mammalian Per2 gene.

Specific diseases are associated with mutations in some of these genes.

Duchenne muscular dystrophy, which is associated with mutations in the dystrophin gene.

Several human genetic disorders are associated with mutations in gap junction genes.

It has been associated with mutations in the genes encoding desmoplakin and plakoglobin.

Phenotypes associated with such mutations are most often recessive.

Pfeiffer syndrome is strongly associated with mutations of Fibroblast growth factor receptor 1 and 2.

It can be associated with mutations affecting the cohesin complex.

Some cases of schizophrenia, the researchers suggested, might be associated with similar mutations.

The disorder has been associated with mutations in the L1CAM gene.