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 ARMC5 gene ARMC5 Expert list;Expert Review Green Primary pigmented nodular adrenocortical disease MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACTH-independent macronodular adrenal hyperplasia 2, OMIM:615954 24283224;24601692;24708098;24905064 False 3 100;0;0 1.10 False ENSG00000140691 ENSG00000140691 HGNC:25781 PDE11A gene PDE11A Expert Review Green;NHS GMS Primary pigmented nodular adrenocortical disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pigmented nodular adrenocortical disease, primary, 2, OMIM:610475 16767104 False 3 100;0;0 1.10 False ENSG00000128655 ENSG00000128655 HGNC:8773 PDE8B gene PDE8B Expert Review Green;NHS GMS Primary pigmented nodular adrenocortical disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pigmented nodular adrenocortical disease, primary, 3, OMIM:614190 18272904 False 3 100;0;0 1.10 False ENSG00000113231 ENSG00000113231 HGNC:8794 PRKAR1A gene PRKAR1A Expert Review Green;NHS GMS Primary pigmented nodular adrenocortical disease MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pigmented nodular adrenocortical disease, primary, 1, OMIM:610489 12213893 False 3 100;0;0 1.10 False ENSG00000108946 ENSG00000108946 HGNC:9388