Acute intermittent porphyria

Porphobilinogen deaminase

Breast and ovarian cancer

BRCA1

Cystic fibrosis

CFTR

Frontotemporal dementia

τ protein

Hemophilia A

Factor VIII

HGPRT deficiency (Lesch–Nyhan syndrome)

Hypoxanthine-guanine phosphoribosyltransferase

Leigh encephalomyelopathy

Pyruvate dehydrogenase E1α

Severe combined immunodeficiency

Adenosine deaminase

Spinal muscle atrophy

SMN1 or SMN2