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 ADAMTS13 gene ADAMTS13 Expert list;Expert Review Amber Atypical haemolytic uraemic syndrome Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150 9828245;12130486;12640381 False 2 0;100;0 3.3 False ENSG00000160323 ENSG00000160323 HGNC:1366 CFHR5 gene CFHR5 Expert list;Expert Review Amber Atypical haemolytic uraemic syndrome Syndromes with prominent renal abnormalities Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Nephropathy due to CFHR5 deficiency, MIM# 614809" 22622361;20513133;30905589;29500241 False 2 0;100;0 3.3 False ENSG00000134389 ENSG00000134389 HGNC:24668