×
Entrez Id:
6521
Gene Symbol:
SLC4A1
SLC4A1
0.690
Biomarker
phenotype
HPO
×
Entrez Id:
6559
Gene Symbol:
SLC12A3
SLC12A3
0.400
Biomarker
phenotype
HPO
ATP6V1B1
0.170
Biomarker
phenotype
HPO
×
Entrez Id:
1188
Gene Symbol:
CLCNKB
CLCNKB
0.110
Biomarker
phenotype
HPO
×
Entrez Id:
4853
Gene Symbol:
NOTCH2
NOTCH2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
55005
Gene Symbol:
RMND1
RMND1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
6834
Gene Symbol:
SURF1
SURF1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
133686
Gene Symbol:
NADK2
NADK2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
10686
Gene Symbol:
CLDN16
CLDN16
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
9997
Gene Symbol:
SCO2
SCO2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
80224
Gene Symbol:
NUBPL
NUBPL
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
57107
Gene Symbol:
PDSS2
PDSS2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
63894
Gene Symbol:
VIPAS39
VIPAS39
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4720
Gene Symbol:
NDUFS2
NDUFS2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
26276
Gene Symbol:
VPS33B
VPS33B
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
27235
Gene Symbol:
COQ2
COQ2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
8942
Gene Symbol:
KYNU
KYNU
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
57724
Gene Symbol:
EPG5
EPG5
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4714
Gene Symbol:
NDUFB8
NDUFB8
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
25915
Gene Symbol:
NDUFAF3
NDUFAF3
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
1374
Gene Symbol:
CPT1A
CPT1A
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
790
Gene Symbol:
CAD
CAD
0.100
Biomarker
phenotype
HPO
ATP6V1B1
0.170
GeneticVariation
phenotype
BEFREE
RTA due to ATP6V1B1 mutations is associated with mild progressive loss of kidney function.
21849803
2011
×
Entrez Id:
760
Gene Symbol:
CA2
CA2
0.080
Biomarker
phenotype
BEFREE
CAII -deficient mice demonstrate polyuria and polydipsia as well as an alkaline urine and bicarbonaturia, consistent with a type III renal tubular acidosis .
29354070
2017
ATP6V1B1
0.170
GeneticVariation
phenotype
BEFREE
ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis .
31733597
2020