SGPL1, sphingosine-1-phosphate lyase 1, 8879

N. diseases: 85; N. variants: 13
Disease: Nephrotic Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.130 GeneticVariation group BEFREE To check if SGPL1 mutations are involved in the pathogenesis of PAI in patients who do not exhibit nephrotic syndrome. 30517686 2019
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.130 GeneticVariation group BEFREE In 2017, recessive mutations in the human SPL gene <i>SGPL1</i> were identified as the cause of a novel inborn error of metabolism associated with nephrosis, endocrine defects, immunodeficiency, acanthosis, and neurological problems. 30635364 2019
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.130 Biomarker group BEFREE In Drosophila, Sply mutants, which lack SGPL1, displayed a phenotype reminiscent of nephrotic syndrome in nephrocytes. 28165339 2017
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.130 Biomarker group HPO