PR:000000300	pituitary homeobox 2 sequence variant T114P (human)	hPITX2/var:T114P|pituitary homeobox 2 sequence variant 3 (human)|UniProtKB:Q99697-1, Thr-114, CHEBI:50342		associated_with_disease_progression	DOID:14686	Axenfeld-Rieger syndrome			PMID:8944018	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_003764	20080301	PRO:CNA