SGPL1, sphingosine-1-phosphate lyase 1, 8879

N. diseases: 85; N. variants: 13
Disease: Neurologic Deficits ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0521654
Disease: Neurologic Deficits
Neurologic Deficits 		0.300 Biomarker group GENOMICS_ENGLAND Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. 28165339 2017