Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906726
rs387906726
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
CUI: C1846175
Disease:
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) 		0.010 GeneticVariation BEFREE We were able to confirm the same c.1234C>T (p.Arg412*) mutation in the DNA sample from an affected fetus of the original family affected with SGBS2. 26545172 2016