Disease: RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908368
rs121908368
Entrez Id: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4
CUI: C1864498
Disease:
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation UNIPROT Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. 12414817 2002
dbSNP: rs121908368
rs121908368
Entrez Id: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4
CUI: C1864498
Disease:
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation UNIPROT Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. 10973252 2000