Disease Term Disease ID Gene Symbol Classification References Source
Distal Renal Tubular Acidosis C1704380 ATP6V0A4 Causal Pathogenic evidence from ClinVar - ClinVar
ATP6V1B1 Causal Pathogenic evidence from ClinVar - ClinVar
SLC4A1 Causal Pathogenic evidence from ClinVar 9312167, 9600966, 23460825 ClinVar
CA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GATA3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SLC4A4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18614622 -
WDR72 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30028003 -
Autosomal dominant distal renal tubular acidosis 93608 SLC4A1 Causal Pathogenic evidence from ClinVar - ClinVar