PR:000000302	pituitary homeobox 2 sequence variant R137P (human)	hPITX2/var:R137P|pituitary homeobox 2 sequence variant 5 (human)|UniProtKB:Q99697-1, Arg-137, CHEBI:50342		associated_with_disease_progression	DOID:14686	Axenfeld-Rieger syndrome			PMID:8944018	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_003766	20080301	PRO:CNA