Condition: Nephrocalcinosis


rs121908523 in AGXT gene and Nephrocalcinosis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

rs104893726 in CLDN16 gene and Nephrocalcinosis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

rs145591298 in CLDN19 gene and Nephrocalcinosis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

rs114368325 in CYP24A1 gene and Nephrocalcinosis PMID 21675912 2011 Mutations in CYP24A1 and idiopathic infantile hypercalcemia.

PMID 22047571 2011 CYP24A1 mutations in idiopathic infantile hypercalcemia.

rs757796926 in GRHPR gene and Nephrocalcinosis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

rs1555466999 in LOC107984758;SLC12A1 gene and Nephrocalcinosis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

rs896545456 in LOC112267905;SLC12A1 gene and Nephrocalcinosis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

rs779588655 in SLC12A1 gene and Nephrocalcinosis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

rs142772770 in SLC34A1 gene and Nephrocalcinosis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

rs778000327 in SLC3A1 gene and Nephrocalcinosis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

rs121964880 in VAX2;ATP6V1B1 gene and Nephrocalcinosis PMID 28893421 2018 Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.