Gene: PTDSS1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9791
Gene Symbol: PTDSS1
PTDSS1 		0.030 GeneticVariation disease BEFREE LMS syndrome was suspected and a previously reported de novo heterozygous missense mutation (c.284G > T, p.R95L) in PTDSS1 was identified. 31403251 2019
Entrez Id: 9791
Gene Symbol: PTDSS1
PTDSS1 		0.030 GeneticVariation disease BEFREE This disorder called Lenz-Majewski syndrome (LMS) is associated with gain of function mutations in PTDSS1, encoding an enzyme involved in phospholipid biosynthesis. 29341480 2018
Entrez Id: 9791
Gene Symbol: PTDSS1
PTDSS1 		0.030 Biomarker disease BEFREE Mutations in thePTDSS1gene coding one of the phosphatidylserine (PS) synthase enzymes, PSS1, were described as causative in LMS patients. 27044099 2016