Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 63916
Gene Symbol: ELMO2
ELMO2
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.020 GeneticVariation BEFREE The follow-up of 3 of 5 patients ended up with mortality (60%). vascular malformation osseous is intraosseous vascular malformation with aggressive biological behavior associated with ELMO-2 gene mutation. 30882408

2019
Entrez Id: 63916
Gene Symbol: ELMO2
ELMO2
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		0.020 GeneticVariation BEFREE Herein, we report loss-of-function mutations in ELMO2 (which translates extracellular signals into cellular movements) that are causative for autosomal-recessive intraosseous vascular malformation (VMOS) in five different families. 27476657

2016