Gene: SGPL1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1 		0.010 GeneticVariation disease 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