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 ERCC6 gene ERCC6 Expert Review Red;Radboud University Medical Center, Nijmegen Hydroa vacciniforme Sun-exposure related conditions Dermatological disorders Cockayne syndrome, type B, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980 False 1 0;0;0 1.2 True ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Red;Radboud University Medical Center, Nijmegen Hydroa vacciniforme Sun-exposure related conditions Dermatological disorders Cockayne syndrome, type A, 216400UV-sensitive syndrome 2, 614621 False 1 0;0;0 1.2 True ENSG00000049167 ENSG00000049167 HGNC:3439