Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A
0.010 GeneticVariation group BEFREE Pathogenic variants in genes involved in phospholipid metabolism, such as <i>PLCB4</i> and <i>PCYT1A,</i> are known to cause bone dysplasia with or without eye anomalies, which led us to select <i>PLCB3</i> as a strong candidate. 29122926 2018