Table 2.

Summary of Discoveries of Genes Underlying Mendelian Phenotypes

Discovery Type		Evidence of Causality
Conservative	Suggestive	Total
Known	known gene; explained, known phenotype	320	19	339
Novel	phenotype expansion	174	24	198
known gene; unexplained, known phenotype	4	0	4
known gene; new phenotype	17	7	24
novel gene; unexplained, known phenotype	25	27	52
novel gene; new phenotype	107	232	339
Total novel		327	290	617
Total number of discoveries		647	309	956