Disease Term Disease ID Gene Symbol Classification References Source
Dent disease 1 C1848336 CLCN5 Causal Pathogenic evidence from ClinVar 8559248, 9062355, 9187673, 9259268, 9328929, 9602200, 9734595, 9853249, 10469281, 11136179, 12637640, 15086899, 15719255, 15895257, 16247550, 16416111, 16822791, 16861240, 17262170, 18025833, 18038239, 18184518, 18540256, 19019917, 19076289, 19546586, 19546591, 19657328, 19806368, 21305656, 23886564, 24081861 ClinVar
Dent disease type 1 93622 CLCN5 Causal Pathogenic evidence from ClinVar - ClinVar
Dent`s disease C0878681 CLCN5 Causal Pathogenic evidence from ClinVar 308990, 10561751, 10906159, 15719255, 20804101 ClinVar
Dent Disease 2 C1845167 INPP5B Causal Pathogenic evidence from ClinVar 28018608 ClinVar
OCRL Causal Pathogenic evidence from ClinVar 10364518, 15627218, 17162149, 17384968, 21031565, 24081861, 27625797, 28018608 ClinVar
Dent disease type 2 93623, C4305529 OCRL Causal Pathogenic evidence from ClinVar - ClinVar