Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
0.020 Biomarker disease BEFREE Recently recessive mutations in sphingosine-1-phosphate lyase (SGPL1) have been published as a cause of syndromic congenital nephrotic syndrome with adrenal insufficiency. 29501407 2018
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
0.020 Biomarker disease BEFREE In conclusion, loss of SGPL1 function is associated with CNS, adrenal calcifications, and hypogonadism. 28181337 2017