Currently DMuDB has over 4,884 records for 33 genes, namely Breast Cancer (BRCA1, BRCA2), Lowe Syndrome (OCRL), Sotos Syndrome (NSD1), HNPCC (MLH1, MSH2), cystic fibrosis (CFTR), X-linked retinitis pigmentosa (XLRP), neurofibromatosis, Types I and II (NF1, NF2), Alstrom Syndrome (ALMS1), CADASIL (NOTCH3), familial adenomatous polyposis (FAP), and muscular dystrophy (DMD), containing over 10,985 individual variants. Here, NOTCH3 is linked to oculocerebrorenal syndrome.