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 ACVR1 gene ACVR1 Expert Review Amber;Other Autosomal recessive primary hypertrophic osteoarthropathy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fibrodysplasia ossificans progressiva OMIM:135100 False 2 0;0;0 1.12 False ENSG00000115170 ENSG00000115170 HGNC:171