Type	Entity	Source evidence	Confidence	Extractor
gene	CLRN1	“Among the seven probands initially diagnosed with Usher syndrome, six had different homozygous variants (three in MYO7A, one in ADGRV1, and one in CLRN1), one had dual diagnoses rather than Usher syndrome (i.e. separate cause for retinal dystrophy and deafness), and one had no identifiable genetic cause.”	0.98	hgnc_dict_v1
phenotype	retinitis pigmentosa	“Regarding the three additional probands identified with homozygous USH2A variants, all three had retinitis pigmentosa only rather than Usher syndrome and all three had different variants.”	0.98	phenotype_alias_lexicon_v2
gene	USH2A	“RESULTS: Ten probands (thirteen patients) were identified-seven probands (nine patients) with clinically diagnosed Usher syndrome and three additional probands (four patients) with biallelic homozygous USH2A variants.”	0.98	hgnc_dict_v1
gene	MYO7A	“Among the seven probands initially diagnosed with Usher syndrome, six had different homozygous variants (three in MYO7A, one in ADGRV1, and one in CLRN1), one had dual diagnoses rather than Usher syndrome (i.e. separate cause for retinal dystrophy and deafness), and one had no identifiable genetic cause.”	0.98	hgnc_dict_v1