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 CYP11B2 gene CYP11B2 Expert Review Amber;Literature Congenital adrenal hypoplasia Adrenal disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypoaldosteronism, congenital, due to CMO I deficiency, OMIM:203400;Hypoaldosteronism, congenital, due to CMO II deficiency, OMIM:610600;Aldosterone to renin ratio raised 1594605;8439335;9360501;12788848;31302112;33098647;33438832;34415991;35848593 False 2 100;0;0 3.9 False ENSG00000179142 ENSG00000179142 HGNC:2592 MCM4 gene MCM4 Expert list;Expert Review Amber Congenital adrenal hypoplasia Adrenal disorders Endocrine disorders Ideopathic Primary Adrenal Failure;Congenital Adrenal Hypoplasia;autosomal recessive growth retardation, adrenal insufficiency, and a selective NK cell deficiency 22354167;22354170 False 2 100;0;0 3.9 False ENSG00000104738 ENSG00000104738 HGNC:6947