SLC4A5, solute carrier family 4 member 5, 57835

N. diseases: 5; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 22610502 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.030 GeneticVariation group BEFREE SLC4A5 variants are also highly associated with salt sensitivity, independent of hypertension. 29642240 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.030 GeneticVariation group BEFREE Previous studies have demonstrated that single nucleotide polymorphisms (SNPs) of the sodium-bicarbonate co-transporter gene (SLC4A5) are associated with hypertension. 22987918 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.030 Biomarker group BEFREE Although not identifying a single causal gene variant that is significantly associated with blood pressure levels and hypertension status across all samples, the results further implicate SLC4A5 as a candidate hypertension susceptibility gene. 14732741 2004
CUI: C0036572
Disease: Seizures
Seizures 		0.010 Biomarker phenotype BEFREE NBCe2 KO mice were not protected against pharmacological or heating-induced seizure development. 29956324 2018
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome 		0.010 Biomarker disease BEFREE NBC4 maps to chromosome 2p13 and is a new candidate gene for Alstrom syndrome. 10978526 2000