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
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1203164637
rs1203164637
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C1970309
Disease:
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.700 GeneticVariation UNIPROT Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis. 17661077 2008
dbSNP: rs1203164637
rs1203164637
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C1970309
Disease:
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.700 GeneticVariation UNIPROT Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1). 16636648 2006
dbSNP: rs1203164637
rs1203164637
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C1970309
Disease:
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.700 GeneticVariation UNIPROT Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. 15930088 2005
dbSNP: rs1203164637
rs1203164637
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C1970309
Disease:
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.700 GeneticVariation UNIPROT Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis. 15713912 2005
dbSNP: rs1203164637
rs1203164637
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C1970309
Disease:
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.700 GeneticVariation UNIPROT A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects. 15471865 2004
dbSNP: rs1203164637
rs1203164637
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C1970309
Disease:
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.700 GeneticVariation UNIPROT Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. 10545938 1999