Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
0.540 Biomarker phenotype MGD Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis. 21228764 2011
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
0.540 GeneticVariation phenotype LHGDN G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis. 18614622 2008
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
0.540 Biomarker phenotype CTD_human G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis. 18614622 2008
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
0.540 GeneticVariation phenotype LHGDN The human NBCe1-A mutant R881C, associated with proximal renal tubular acidosis, retains function but is mistargeted in polarized renal epithelia. 16707554 2006
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
0.540 Biomarker phenotype LHGDN Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. 15930088 2005
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
0.540 GeneticVariation phenotype BEFREE Mutations in the gene SLC4A4, encoding Na+-HCO3- cotransporter (NBC-1), have been found in proximal RTA with ocular abnormalities; in the gene SLC4A1, encoding Cl(-)-HCO3- exchanger (AE1), in autosomal dominant distal RTA; in the gene ATP6B1, encoding B1 subunit of H+-ATPase, in autosomal recessive distal RTA with sensorineural deafness; and in the gene CA2, encoding carbonic anhydrase II, in autosomal recessive osteopetrosis. 11045400 2000