Human Kidney Gene DataBase
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Mutation in End-Stage Renal Disease
Gene Name
Gene Symbol
Locus ID
References
5,10-methylenetetrahydrofolate reductase (NADPH)
MTHFR
4524
2
hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)
HPRT1
3251
1
chloride channel 5 (nephrolithiasis 2, X-linked, Dent disease)
CLCN5
1184
9
polycystic kidney disease 1 (autosomal dominant)
PKD1
5310
41
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Department of Urology
University of California, San Francisco