PR:000000301	pituitary homeobox 2 sequence variant R115H (human)	hPITX2/var:R115H|pituitary homeobox 2 sequence variant 4 (human)|UniProtKB:Q99697-1, Arg-115, CHEBI:29979		associated_with_disease_progression	DOID:0050786	iridogoniodysgenesis syndrome			PMID:9618168	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_003765	20080301	PRO:CNA