Table 3. Phenotype profile statistics for EQ-annotated OMIM genes.

Gene	Number of Genotypes	Number of Annotations	Distinct EQs
ATP2A1	5	16	3
EPB41	5	18	8
EXT2	5	35	7
EYA1	20	567	137
FECH	14	37	9
PAX2	17	178	87
SHH	23	215	31
SOX9	14	329	164
SOX10	19	298	155
TNNT2	10	36	7
TTN	27	143	59

For each OMIM gene, the number of alleles annotated and the total number of EQ annotations are listed. Of these total number of annotations, the number of which were unique amongst the set are also listed. This set of annotations provides the basis for the analysis presented in Figure 5. Genes annotated in triplicate are indicated in bold.