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 FOXD3 gene FOXD3 Expert Review Amber;GDL Glaucoma panel;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anterior segment dysgenesis;Peters anomaly;aniridia 22815627 False 2 40;20;40 1.45 False ENSG00000187140 ENSG00000187140 HGNC:3804 GJA1 gene GJA1 Expert Review Amber;Expert Review Green;GDL Glaucoma panel;NHS GMS Glaucoma (developmental) Anterior segment abnormalities Ophthalmological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculodentodigital dysplasia, OMIM:164200 25976645;21273537;34035645 False 2 67;33;0 1.45 False ENSG00000152661 ENSG00000152661 HGNC:4274