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 HPGD gene HPGD Expert Review Green;London North GLH;NHS GMS Autosomal recessive primary hypertrophic osteoarthropathy BIALLELIC, autosomal or pseudoautosomal Hypertrophic osteoarthropathy, primary, autosomal recessive 1 OMIM:259100 False 3 100;0;0 1.12 False ENSG00000164120 ENSG00000164120 HGNC:5154 SLCO2A1 gene SLCO2A1 Expert Review Green;London North GLH;NHS GMS Autosomal recessive primary hypertrophic osteoarthropathy BIALLELIC, autosomal or pseudoautosomal Hypertrophic osteoarthropathy, primary, autosomal recessive 2 OMIM:614441 False 3 100;0;0 1.12 False ENSG00000174640 ENSG00000174640 HGNC:10955