SLC4A4, solute carrier family 4 member 4, 8671

N. diseases: 58; N. variants: 11
Disease: Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970309
Disease: Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.700 GeneticVariation disease UNIPROT Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis. 17661077 2008
CUI: C1970309
Disease: Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.700 GeneticVariation disease UNIPROT Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1). 16636648 2006
CUI: C1970309
Disease: Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.700 GeneticVariation disease UNIPROT Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis. 15713912 2005
CUI: C1970309
Disease: Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.700 GeneticVariation disease UNIPROT Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. 15930088 2005
CUI: C1970309
Disease: Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.700 GeneticVariation disease UNIPROT A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects. 15471865 2004
CUI: C1970309
Disease: Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.700 Biomarker disease GENOMICS_ENGLAND Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma. 11274232 2001
CUI: C1970309
Disease: Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. 10545938 1999
CUI: C1970309
Disease: Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.700 GeneticVariation disease UNIPROT Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. 10545938 1999
CUI: C1970309
Disease: Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.700 CausalMutation disease CLINVAR
CUI: C1970309
Disease: Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.700 GeneticVariation disease CLINVAR
CUI: C1970309
Disease: Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.700 Biomarker disease CTD_human
CUI: C1970309
Disease: Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.700 GermlineCausalMutation disease ORPHANET