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 MIR184 gene MIR184 Expert Review Red;Wessex and West Midlands GLH Corneal dystrophy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EDICT syndrome OMIM:614303, MONDO:0013678 25157590;21996275;24138095 False 1 33;33;33 3.10 False ENSG00000207695 ENSG00000207695 HGNC:31555 PDGFRB gene PDGFRB Literature Corneal dystrophy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 33450762 False 1 0;0;100 3.10 False ENSG00000113721 ENSG00000113721 HGNC:8804 VSX1 gene VSX1 Expert list;Expert Review Red Corneal dystrophy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Keratoconus 1, OMIM:148300, MONDO:0007851 False 1 100;0;0 3.10 False ENSG00000100987 ENSG00000100987 HGNC:12723