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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