rs754517968, ATP6V0A4

N. diseases: 1
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
CUI: C1864498
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
0.700 GeneticVariation CLINVAR Importance of early audiologic assessment in distal renal tubular acidosis. 23754897 2011
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
CUI: C1864498
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
0.700 GeneticVariation CLINVAR Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. 16611712 2006