PR:000000299	pituitary homeobox 2 sequence variant L100Q (human)	hPITX2/var:L100Q|pituitary homeobox 2 sequence variant 2 (human)|UniProtKB:Q99697-1, Leu-100, CHEBI:30011		associated_with_disease_progression	DOID:14686	Axenfeld-Rieger syndrome			PMID:8944018	EXP	NCBITaxon:9606		UniProtKB_VAR:VAR_003763	20080301	PRO:CNA