PTDSS1, phosphatidylserine synthase 1, 9791

N. diseases: 94; N. variants: 3
Disease: Lenz Majewski hyperostotic dwarfism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777089
rs587777089
Entrez Id: 9791
Gene Symbol: PTDSS1
PTDSS1
CUI: C0432269
Disease:
Lenz Majewski hyperostotic dwarfism 		0.800 GeneticVariation UNIPROT Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. 24241535 2014
dbSNP: rs587777089
rs587777089
Entrez Id: 9791
Gene Symbol: PTDSS1
PTDSS1
CUI: C0432269
Disease:
Lenz Majewski hyperostotic dwarfism 		T 0.800 CausalMutation CLINVAR