Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Renal tubular acidosis, distal, autosomal recessive ATP6V0A4 disease C1864498 Biomarker 0.77 orphanet , disgenet
Renal tubular acidosis, distal, autosomal recessive ATP6V0A4 disease C1864498 GermlineCausalMutation 0.77 orphanet , disgenet
Renal tubular acidosis, distal, autosomal recessive ATP6V0A4 disease C1864498 GeneticVariation 0.77 orphanet , disgenet
Renal tubular acidosis, distal, autosomal recessive ATP6V0A4 disease C1864498 CausalMutation 0.77 orphanet , disgenet
Renal tubular acidosis, distal, autosomal recessive ATP6V1B1 disease C1864498 GermlineCausalMutation 0.36 orphanet , disgenet
Renal tubular acidosis, distal, autosomal recessive ATP6V1B1 disease C1864498 GeneticVariation 0.36 orphanet , disgenet
Renal tubular acidosis, distal, autosomal recessive ATP6V1B1 disease C1864498 Biomarker 0.36 orphanet , disgenet
Renal tubular acidosis, distal, autosomal recessive FOXI1 disease C1864498 GermlineCausalMutation 0.3 orphanet , disgenet
Renal tubular acidosis, distal, autosomal recessive SLC4A1 disease C1864498 GeneticVariation 0.03 disgenet
Renal tubular acidosis, distal, autosomal recessive OSGEP disease C1864498 GeneticVariation 0.01 disgenet
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