PR:000000298 pituitary homeobox 2 sequence variant R89W (human) hPITX2/var:R89W|pituitary homeobox 2 sequence variant 1 (human)|UniProtKB:Q99697-1, Arg-89, CHEBI:29954 associated_with_disease_progression DOID:0050786 iridogoniodysgenesis syndrome PMID:9437321 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_003762 20080301 PRO:CNA