Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
0.400 Biomarker phenotype GENOMICS_ENGLAND In 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects, we identified 9 different recessive mutations in SGPL1, which encodes sphingosine-1-phosphate (S1P) lyase. 28165339 2017
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
0.400 Biomarker phenotype HPO