SLC4A4, solute carrier family 4 member 4, 8671

N. diseases: 58; N. variants: 11
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: C0268435
Disease:
Renal Tubular Acidosis, Type II 		0.020 GeneticVariation BEFREE Substitution of pRTA residues with cysteines impaired the membrane trafficking of R510C and R881C, the remaining membrane-processed constructs had various impaired transport function. 20197274 2010
dbSNP: rs1203164637
rs1203164637
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C0268435
Disease:
Renal Tubular Acidosis, Type II 		0.020 GeneticVariation BEFREE Recently, a novel homozygous missense mutant (R881C) of NBCe1-A was reported from a patient with a severe pRTA phenotype. 16707554 2006
dbSNP: rs121908857
rs121908857
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C0268435
Disease:
Renal Tubular Acidosis, Type II 		0.020 GeneticVariation BEFREE We recently described a novel pRTA mutation p.Gln913Arg (Q913R), inherited in compound heterozygous form with p.Arg510His (R510H). 29449648 2018
dbSNP: rs121908857
rs121908857
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C0268435
Disease:
Renal Tubular Acidosis, Type II 		0.020 GeneticVariation BEFREE In the present study, we report the first case of compound-heterozygous inheritance of pRTA (p.Arg510His/p.Gln913Arg) in an individual with low blood pH, blindness and neurological signs that resemble transient ischaemic attacks. 27338124 2016
dbSNP: rs121908858
rs121908858
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C0268435
Disease:
Renal Tubular Acidosis, Type II 		0.020 GeneticVariation BEFREE These findings represent the first evidence that in the presence of the NBCe1-A-Q29X mutation that causes proximal renal tubular acidosis, full-length functional NBCe1-A protein can be produced. 18614622 2008
dbSNP: rs121908858
rs121908858
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C0268435
Disease:
Renal Tubular Acidosis, Type II 		0.020 GeneticVariation BEFREE These results, together with the presence of nonfunctional mutants (Q29X and DeltaA) in other patients, suggest that at least approximately 50% reduction of NBC1 activity would be required to cause severe pRTA. 15930088 2005
dbSNP: rs886059596
rs886059596
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C0020302
Disease:
Hydrophthalmos 		0.010 GeneticVariation BEFREE We conclude from the very low penetrance and genetic epidemiological analyses that c.1103G>A (p.R368H) is unlikely to be a disease-causing recessive mutation in congenital glaucoma as previously reported. 29556725 2019
dbSNP: rs121908856
rs121908856
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C1970309
Disease:
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121908857
rs121908857
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C1970309
Disease:
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121908858
rs121908858
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C1970309
Disease:
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1553913019
rs1553913019
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C1970309
Disease:
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs2579330
rs2579330
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C0429028
Disease:
QT interval feature (observable entity) 		C 0.800 GeneticVariation GWASCAT Impact of ancestry and common genetic variants on QT interval in African Americans. 23166209 2012
dbSNP: rs17689531
rs17689531
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs17689531
rs17689531
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs2363719
rs2363719
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C0429028
Disease:
QT interval feature (observable entity) 		A 0.700 GeneticVariation GWASCAT Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. 24952745 2014
dbSNP: rs2579330
rs2579330
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C0429028
Disease:
QT interval feature (observable entity) 		C 0.800 GeneticVariation GWASDB Impact of ancestry and common genetic variants on QT interval in African Americans. 23166209 2012
dbSNP: rs1530976
rs1530976
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C0264408
Disease:
Childhood asthma 		0.700 GeneticVariation GWASDB Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations. 23829686 2013
dbSNP: rs2602098
rs2602098
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C0038663
Disease:
Suicide attempt 		0.700 GeneticVariation GWASDB Genome-wide association study of suicide attempts in mood disorder patients. 21041247 2010
dbSNP: rs121908856
rs121908856
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C1970309
Disease:
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.800 GeneticVariation UNIPROT Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. 15930088 2005
dbSNP: rs121908856
rs121908856
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C1970309
Disease:
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.800 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: rs121908856
rs121908856
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C1970309
Disease:
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.800 GeneticVariation UNIPROT Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis. 17661077 2008
dbSNP: rs121908856
rs121908856
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C1970309
Disease:
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.800 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: rs121908856
rs121908856
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C1970309
Disease:
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.800 GeneticVariation UNIPROT Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. 10545938 1999
dbSNP: rs121908856
rs121908856
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C1970309
Disease:
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.800 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: rs121908857
rs121908857
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C1970309
Disease:
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 		0.800 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