Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
0.340 GeneticVariation disease BEFREE Recently, sphingosine-1-phosphate lyase 1 (SGPL1) gene mutations were recognized as a cause of steroid-resistant nephrotic syndrome type 14 (NPHS14), a sphingolipidosis with multisystemic manifestations, including PAI. 30517686 2019
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
0.340 GeneticVariation disease BEFREE Congenital sphingosine-1-phosphate (S1P) lyase deficiency due to biallelic mutations in SGPL1 gene has recently been described in association with primary adrenal insufficiency and steroid-resistant nephrotic syndrome. 29685115 2018
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
0.340 GeneticVariation disease BEFREE Together, these results indicate that SGPL1 mutations cause a syndromic form of SRNS. 28165339 2017
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
0.340 GeneticVariation disease BEFREE Here, we have described a primary adrenal insufficiency syndrome and steroid-resistant nephrotic syndrome caused by loss-of-function mutations in sphingosine-1-phosphate lyase (SGPL1). 28165343 2017
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
0.340 Biomarker disease GENOMICS_ENGLAND Here, we have described a primary adrenal insufficiency syndrome and steroid-resistant nephrotic syndrome caused by loss-of-function mutations in sphingosine-1-phosphate lyase (SGPL1). 28165343 2017