SLC4A4, solute carrier family 4 member 4, 8671

N. diseases: 58; N. variants: 11
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 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
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II 		0.500 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.440 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.430 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 Biomarker group HPO
CUI: C0155120
Disease: Corneal Dystrophy, Band-Shaped
Corneal Dystrophy, Band-Shaped 		0.120 Biomarker disease HPO
CUI: C0085569
Disease: Metabolic acidosis, NAG, acidifying salts
Metabolic acidosis, NAG, acidifying salts 		0.100 Biomarker disease HPO
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 Biomarker phenotype HPO
CUI: C1858626
Disease: Bicarbonate-wasting renal tubular acidosis
Bicarbonate-wasting renal tubular acidosis 		0.100 Biomarker phenotype HPO
CUI: C1858628
Disease: Increased red cell osmotic resistance
Increased red cell osmotic resistance 		0.100 Biomarker phenotype HPO
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: 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
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II 		0.500 Biomarker disease BEFREE Mutations in the gene encoding the Na+/HCO3- cotransporter, NBC1, have recently been identified in proximal renal tubular acidosis with corneal calcification. 10990375 2000
CUI: C0002063
Disease: Alkalosis
Alkalosis 		0.010 AlteredExpression phenotype BEFREE Specifically, NBC-1 may be up-regulated in metabolic acidosis and potassium depletion and in response to glucocorticoid excess and may be down-regulated in response to HCO3- loading or alkalosis. 10652014 2000
CUI: C0853954
Disease: Corneal calcification
Corneal calcification 		0.010 GeneticVariation phenotype BEFREE Mutations in the gene encoding the Na+/HCO3- cotransporter, NBC1, have recently been identified in proximal renal tubular acidosis with corneal calcification. 10990375 2000
CUI: C1971021
Disease: Potassium depletion
Potassium depletion 		0.010 AlteredExpression disease BEFREE Specifically, NBC-1 may be up-regulated in metabolic acidosis and potassium depletion and in response to glucocorticoid excess and may be down-regulated in response to HCO3- loading or alkalosis. 10652014 2000
CUI: C4272578
Disease: Autosomal Recessive Osteopetrosis
Autosomal Recessive Osteopetrosis 		0.010 GeneticVariation disease 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
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: C0268435
Disease: Renal Tubular Acidosis, Type II
Renal Tubular Acidosis, Type II 		0.500 Biomarker disease BEFREE These results have implications for understanding the role of kNBC1 in the pathophysiologic processes of pRTA associated with ocular abnormalities and mental retardation. 11274232 2001
CUI: C0086543
Disease: Cataract
Cataract 		0.440 GeneticVariation disease BEFREE Proximal renal tubular acidosis associated with ocular abnormalities such as band keratopathy, glaucoma, and cataracts is caused by mutations in the Na(+)-HCO(3)(-) cotransporter (NBC-1). 11435462 2001
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 Biomarker group BEFREE These results have implications for understanding the role of kNBC1 in the pathophysiologic processes of pRTA associated with ocular abnormalities and mental retardation. 11274232 2001