The functional importance of disease-associated mutation

BMC Bioinformatics

Table 2 Genes with average conservation ratios of zero

Gene	Disease Association	# Mutations
CLN3	Batten Disease	5
PAX8	Thyroid Hypoplasia	2
PROP1	Pituitary Hormone Deficiency	2
RAG1	Omenn Syndrome, Immunodeficiency	7
WISP3	Pseudorheumatoid Dysplasia	2

The mutations in these genes are perfectly conserved by our method. See text for details.

ISSN: 1471-2105