Fig. 4

Illustration of disease genes (pink) and downstream genes (white) of the following CATG-0 diseases. a Irritable bowel syndrome. b Histidinemia. c Ichthyosis with hypotrichosis. d Autosomal dominant striatal degeneration. e Van Maldergem syndrome. f Alport syndrome. g Familial osteochondritis dissecans, Spondyloepiphyseal dysplasia (Kimberley type). h Stiff skin syndrome, Marfan syndrome, MASS phenotype. i Weill-Marchesani syndrome. Note that diseases in g, h, i share a part of disease genes and downstream genes. The different color of gene FBN1 means that it is not a disease gene in g but a disease gene in h and i