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 addition, whole exome sequencing approach also solved the genetics of some syndromic forms of PAI including IMAGe syndrome (<i>CDKN1C</i>), Irish traveler syndrome (<i>MCM4</i>), MIRAGE syndrome (<i>SAMD9</i>); and most recently a syndrome combining FGD with steroid-resistant nephrotic syndrome and ichthyosis caused by mutations in the gene for sphingosine-1-phosphate lyase 1 (<i>SGPL1</i>). 28450305 2017