SNPMiner Trials by Shray Alag


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Report for Mutation A62T

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Genetic Study of Nephrolithiasis in Gouty Diathesis

Gouty diathesis describes uric acid or calcium oxalate nephrolithiasis and low urinary pH (<5.5). A hereditary component has been outlined for several forms of nephrolithiasis (such as hypercalciuria, hyperoxaluria, cystinuria, renal tubular acidosis), leading to the hypothesis of a genetic predisposition to nephrolithiasis. At the Unit of Nephrology, Ospedali Riuniti di Bergamo, more than 100 patients affected by gouty diathesis are followed. Fifty percent of them has a familiarity for kidney stones formation. The aim of our study is to identify the genetic factors that predispose to the development of nephrolithiasis in patients with gouty diathesis.

NCT00149305 Nephrolithiasis Other: Genetic analyses Other: Genetic analyses
MeSH: Nephrolithiasis Kidney Calculi Disease Susceptibility
HPO: Nephrolithiasis

They found an association of UAN to a new gene, called ZNF365, and in particular to its variant Ala62Thr, making it a strong candidate predisposing factor. --- Ala62Thr ---



HPO Nodes


Nephrolithiasis
Genes 119
HPRT1 GDF2 GTF2I APRT ANTXR1 BAZ1B BSCL2 SERPINH1 ACVRL1 AIP GABBR2 GNAS RFC2 MOCS1 KRT17 SLC6A19 APRT CLDN19 CYP27A1 SLC37A4 HNF1B PAX2 PLG STXBP1 CLCN5 ATP6V1B1 KCNH1 GTF2IRD1 FBN1 CYP24A1 SMAD4 G6PC ADCY10 PLG HGD SLC2A9 GCM2 AP2S1 ATP7B LIMK1 MECP2 SLC3A1 NOD2 FOXG1 CTH ADCY10 USP8 PREPL PLCD1 HPRT1 PPM1B ARMC5 GNA11 ENG XDH CTNS CAMKMT GRHPR OPLAH AGXT HLA-DRB1 HSPG2 H19-ICR AR CDKL5 SI CLCN5 CLIP2 HPRT1 CLDN10 CACNA1D CDC73 KCNQ1OT1 H19 CLDN16 USP8 CLDN19 CLCN5 ELN KCNQ1 AGXT OCRL CDC73 MGME1 SLC1A1 CDH23 SLC6A20 MICOS13 SLC3A1 SLC3A1 ADAMTSL1 SLC34A1 TBL2 CASR CASR GRHPR PLG CDKN1C SLC36A2 HOGA1 PRPS1 AGPAT2 PREPL BTNL2 SLC34A3 IGF2 SETBP1 SLC22A12 NTNG1 MOCOS CDC73 SLC7A9 HOGA1 PLCD1 SLC9A3R1 SLC26A1 CACNA1D VDR MOCS2