Renal tubular acidosis

Disease Term Disease ID Gene Symbol Classification References Source
Autosomal recessive distal renal tubular acidosis 402041 ATP6V0A4 Causal Pathogenic evidence from ClinVar - ClinVar
ATP6V1B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FOXI1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE C1864498 ATP6V0A4 Causal Pathogenic evidence from ClinVar 10973252, 12414817, 16611712, 23729491, 23754897, 26208211, 27247958, 29311258 ClinVar
ATP6V1B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23729491 -
FOXI1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29242249 -
Renal Tubular Acidosis, Type II C0268435 SLC4A1 Causal Pathogenic evidence from ClinVar 9312167, 23460825 ClinVar
ALDOB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CYP11B2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FBN1 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 - -
OCRL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PC 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 -
UQCC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Renal tubular acidosis, distal, type 3 C1849435 CA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -