SGPL1, sphingosine-1-phosphate lyase 1, 8879

N. diseases: 85; N. variants: 13
Disease: Hydrops Fetalis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.310 GeneticVariation disease BEFREE We have identified a case with fetal hydrops and brain malformations due to a mutation in SGPL1. 29501407 2018
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.310 Biomarker disease GENOMICS_ENGLAND