Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name PITX2 gene PITX2 Expert Review Amber;Wessex and West Midlands GLH Sporadic aniridia MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aniridia, MONDO:0019172 21423868;27124303 False 2 0;100;0 3.5 False ENSG00000164093 ENSG00000164093 HGNC:9005